SNP Links for Protein (Select 1207996577) - SNP

Links from Protein

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Select item 14905527931.

rs1490552793 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 21:21537925 (GRCh38)
21:22910246 (GRCh37)
Canonical SPDI:: NC_000021.9:21537924:A:G,NC_000021.9:21537924:A:T
Gene:: NCAM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.21537925A>G, NC_000021.9:g.21537925A>T, NC_000021.8:g.22910246A>G, NC_000021.8:g.22910246A>T, NM_004540.5:c.2482A>G, NM_004540.5:c.2482A>T, NM_004540.4:c.2482A>G, NM_004540.4:c.2482A>T, NM_004540.3:c.2482A>G, NM_004540.3:c.2482A>T, XM_011529575.4:c.2593A>G, XM_011529575.4:c.2593A>T, XM_011529575.3:c.2593A>G, XM_011529575.3:c.2593A>T, XM_011529575.2:c.2593A>G, XM_011529575.2:c.2593A>T, XM_011529575.1:c.2593A>G, XM_011529575.1:c.2593A>T, XM_017028356.3:c.2026A>G, XM_017028356.3:c.2026A>T, XM_017028356.2:c.2026A>G, XM_017028356.2:c.2026A>T, XM_017028356.1:c.2026A>G, XM_017028356.1:c.2026A>T, XM_011529585.3:c.2026A>G, XM_011529585.3:c.2026A>T, XM_011529585.2:c.2026A>G, XM_011529585.2:c.2026A>T, XM_011529585.1:c.2026A>G, XM_011529585.1:c.2026A>T, NM_001352592.2:c.2557A>G, NM_001352592.2:c.2557A>T, NM_001352592.1:c.2557A>G, NM_001352592.1:c.2557A>T, NM_001352591.2:c.2518A>G, NM_001352591.2:c.2518A>T, NM_001352591.1:c.2518A>G, NM_001352591.1:c.2518A>T, NM_001352595.2:c.2056A>G, NM_001352595.2:c.2056A>T, NM_001352595.1:c.2056A>G, NM_001352595.1:c.2056A>T, XM_047440784.1:c.2557A>G, XM_047440784.1:c.2557A>T, NP_004531.2:p.Ile828Val, NP_004531.2:p.Ile828Phe, XP_011527877.1:p.Ile865Val, XP_011527877.1:p.Ile865Phe, XP_016883845.1:p.Ile676Val, XP_016883845.1:p.Ile676Phe, XP_011527887.1:p.Ile676Val, XP_011527887.1:p.Ile676Phe, NP_001339521.1:p.Ile853Val, NP_001339521.1:p.Ile853Phe, NP_001339520.1:p.Ile840Val, NP_001339520.1:p.Ile840Phe, NP_001339524.1:p.Ile686Val, NP_001339524.1:p.Ile686Phe, XP_047296740.1:p.Ile853Val, XP_047296740.1:p.Ile853Phe

Select item 14886836112.

rs1488683611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:21324465 (GRCh38)
21:22696785 (GRCh37)
Canonical SPDI:: NC_000021.9:21324464:C:T
Gene:: NCAM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000021.9:g.21324465C>T, NC_000021.8:g.22696785C>T, NM_004540.5:c.702C>T, NM_004540.4:c.702C>T, NM_004540.3:c.702C>T, XM_011529575.4:c.777C>T, XM_011529575.3:c.777C>T, XM_011529575.2:c.777C>T, XM_011529575.1:c.777C>T, XM_011529581.4:c.777C>T, XM_011529581.3:c.777C>T, XM_011529581.2:c.777C>T, XM_011529581.1:c.777C>T, XM_011529580.4:c.777C>T, XM_011529580.3:c.777C>T, XM_011529580.2:c.777C>T, XM_011529580.1:c.777C>T, XM_011529582.4:c.777C>T, XM_011529582.3:c.777C>T, XM_011529582.2:c.777C>T, XM_011529582.1:c.777C>T, XM_017028356.3:c.210C>T, XM_017028356.2:c.210C>T, XM_017028356.1:c.210C>T, XM_011529585.3:c.210C>T, XM_011529585.2:c.210C>T, XM_011529585.1:c.210C>T, NM_001352592.2:c.777C>T, NM_001352592.1:c.777C>T, NM_001352591.2:c.702C>T, NM_001352591.1:c.702C>T, NM_001352595.2:c.276C>T, NM_001352595.1:c.276C>T, XM_024452081.2:c.702C>T, XM_024452081.1:c.702C>T, NM_001352593.2:c.702C>T, NM_001352593.1:c.702C>T, NM_001352594.2:c.702C>T, NM_001352594.1:c.702C>T, NM_001352596.2:c.702C>T, NM_001352596.1:c.702C>T, NM_001352597.2:c.777C>T, NM_001352597.1:c.777C>T, XM_047440784.1:c.777C>T, XM_047440785.1:c.702C>T

Select item 14863068493.

rs1486306849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:21373928 (GRCh38)
21:22746248 (GRCh37)
Canonical SPDI:: NC_000021.9:21373927:G:A
Gene:: NCAM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.21373928G>A, NC_000021.8:g.22746248G>A, NM_004540.5:c.1110G>A, NM_004540.4:c.1110G>A, NM_004540.3:c.1110G>A, XM_011529575.4:c.1185G>A, XM_011529575.3:c.1185G>A, XM_011529575.2:c.1185G>A, XM_011529575.1:c.1185G>A, XM_011529581.4:c.1185G>A, XM_011529581.3:c.1185G>A, XM_011529581.2:c.1185G>A, XM_011529581.1:c.1185G>A, XM_011529580.4:c.1185G>A, XM_011529580.3:c.1185G>A, XM_011529580.2:c.1185G>A, XM_011529580.1:c.1185G>A, XM_011529582.4:c.1185G>A, XM_011529582.3:c.1185G>A, XM_011529582.2:c.1185G>A, XM_011529582.1:c.1185G>A, XM_017028356.3:c.618G>A, XM_017028356.2:c.618G>A, XM_017028356.1:c.618G>A, XM_011529585.3:c.618G>A, XM_011529585.2:c.618G>A, XM_011529585.1:c.618G>A, NM_001352592.2:c.1185G>A, NM_001352592.1:c.1185G>A, NM_001352591.2:c.1110G>A, NM_001352591.1:c.1110G>A, NM_001352595.2:c.684G>A, NM_001352595.1:c.684G>A, XM_024452081.2:c.1110G>A, XM_024452081.1:c.1110G>A, NM_001352593.2:c.1110G>A, NM_001352593.1:c.1110G>A, NM_001352594.2:c.1110G>A, NM_001352594.1:c.1110G>A, NM_001352596.2:c.1110G>A, NM_001352596.1:c.1110G>A, NM_001352597.2:c.1185G>A, NM_001352597.1:c.1185G>A, XM_047440784.1:c.1185G>A, XM_047440785.1:c.1110G>A

Select item 14848211994.

rs1484821199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:21324462 (GRCh38)
21:22696782 (GRCh37)
Canonical SPDI:: NC_000021.9:21324461:G:C
Gene:: NCAM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.21324462G>C, NC_000021.8:g.22696782G>C, NM_004540.5:c.699G>C, NM_004540.4:c.699G>C, NM_004540.3:c.699G>C, XM_011529575.4:c.774G>C, XM_011529575.3:c.774G>C, XM_011529575.2:c.774G>C, XM_011529575.1:c.774G>C, XM_011529581.4:c.774G>C, XM_011529581.3:c.774G>C, XM_011529581.2:c.774G>C, XM_011529581.1:c.774G>C, XM_011529580.4:c.774G>C, XM_011529580.3:c.774G>C, XM_011529580.2:c.774G>C, XM_011529580.1:c.774G>C, XM_011529582.4:c.774G>C, XM_011529582.3:c.774G>C, XM_011529582.2:c.774G>C, XM_011529582.1:c.774G>C, XM_017028356.3:c.207G>C, XM_017028356.2:c.207G>C, XM_017028356.1:c.207G>C, XM_011529585.3:c.207G>C, XM_011529585.2:c.207G>C, XM_011529585.1:c.207G>C, NM_001352592.2:c.774G>C, NM_001352592.1:c.774G>C, NM_001352591.2:c.699G>C, NM_001352591.1:c.699G>C, NM_001352595.2:c.273G>C, NM_001352595.1:c.273G>C, XM_024452081.2:c.699G>C, XM_024452081.1:c.699G>C, NM_001352593.2:c.699G>C, NM_001352593.1:c.699G>C, NM_001352594.2:c.699G>C, NM_001352594.1:c.699G>C, NM_001352596.2:c.699G>C, NM_001352596.1:c.699G>C, NM_001352597.2:c.774G>C, NM_001352597.1:c.774G>C, XM_047440784.1:c.774G>C, XM_047440785.1:c.699G>C, NP_004531.2:p.Arg233Ser, XP_011527877.1:p.Arg258Ser, XP_011527883.1:p.Arg258Ser, XP_011527882.1:p.Arg258Ser, XP_011527884.1:p.Arg258Ser, XP_016883845.1:p.Arg69Ser, XP_011527887.1:p.Arg69Ser, NP_001339521.1:p.Arg258Ser, NP_001339520.1:p.Arg233Ser, NP_001339524.1:p.Arg91Ser, XP_024307849.1:p.Arg233Ser, NP_001339522.1:p.Arg233Ser, NP_001339523.1:p.Arg233Ser, NP_001339525.1:p.Arg233Ser, NP_001339526.1:p.Arg258Ser, XP_047296740.1:p.Arg258Ser, XP_047296741.1:p.Arg233Ser

Select item 14848132555.

rs1484813255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:21477389 (GRCh38)
21:22849710 (GRCh37)
Canonical SPDI:: NC_000021.9:21477388:G:T
Gene:: NCAM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.21477389G>T, NC_000021.8:g.22849710G>T, NM_004540.5:c.1995G>T, NM_004540.4:c.1995G>T, NM_004540.3:c.1995G>T, XM_011529575.4:c.2070G>T, XM_011529575.3:c.2070G>T, XM_011529575.2:c.2070G>T, XM_011529575.1:c.2070G>T, XM_011529581.4:c.2070G>T, XM_011529581.3:c.2070G>T, XM_011529581.2:c.2070G>T, XM_011529581.1:c.2070G>T, XM_011529580.4:c.2070G>T, XM_011529580.3:c.2070G>T, XM_011529580.2:c.2070G>T, XM_011529580.1:c.2070G>T, XM_011529582.4:c.2070G>T, XM_011529582.3:c.2070G>T, XM_011529582.2:c.2070G>T, XM_011529582.1:c.2070G>T, XM_017028356.3:c.1503G>T, XM_017028356.2:c.1503G>T, XM_017028356.1:c.1503G>T, XM_011529585.3:c.1503G>T, XM_011529585.2:c.1503G>T, XM_011529585.1:c.1503G>T, NM_001352592.2:c.2070G>T, NM_001352592.1:c.2070G>T, NM_001352591.2:c.1995G>T, NM_001352591.1:c.1995G>T, NM_001352595.2:c.1569G>T, NM_001352595.1:c.1569G>T, XM_024452081.2:c.1995G>T, XM_024452081.1:c.1995G>T, NM_001352593.2:c.1995G>T, NM_001352593.1:c.1995G>T, NM_001352594.2:c.1995G>T, NM_001352594.1:c.1995G>T, XM_047440784.1:c.2070G>T, XM_047440785.1:c.1995G>T, NP_004531.2:p.Gln665His, XP_011527877.1:p.Gln690His, XP_011527883.1:p.Gln690His, XP_011527882.1:p.Gln690His, XP_011527884.1:p.Gln690His, XP_016883845.1:p.Gln501His, XP_011527887.1:p.Gln501His, NP_001339521.1:p.Gln690His, NP_001339520.1:p.Gln665His, NP_001339524.1:p.Gln523His, XP_024307849.1:p.Gln665His, NP_001339522.1:p.Gln665His, NP_001339523.1:p.Gln665His, XP_047296740.1:p.Gln690His, XP_047296741.1:p.Gln665His

Select item 14838800936.

rs1483880093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:21335588 (GRCh38)
21:22707908 (GRCh37)
Canonical SPDI:: NC_000021.9:21335587:G:A
Gene:: NCAM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.21335588G>A, NC_000021.8:g.22707908G>A, NM_004540.5:c.821G>A, NM_004540.4:c.821G>A, NM_004540.3:c.821G>A, XM_011529575.4:c.896G>A, XM_011529575.3:c.896G>A, XM_011529575.2:c.896G>A, XM_011529575.1:c.896G>A, XM_011529581.4:c.896G>A, XM_011529581.3:c.896G>A, XM_011529581.2:c.896G>A, XM_011529581.1:c.896G>A, XM_011529580.4:c.896G>A, XM_011529580.3:c.896G>A, XM_011529580.2:c.896G>A, XM_011529580.1:c.896G>A, XM_011529582.4:c.896G>A, XM_011529582.3:c.896G>A, XM_011529582.2:c.896G>A, XM_011529582.1:c.896G>A, XM_017028356.3:c.329G>A, XM_017028356.2:c.329G>A, XM_017028356.1:c.329G>A, XM_011529585.3:c.329G>A, XM_011529585.2:c.329G>A, XM_011529585.1:c.329G>A, NM_001352592.2:c.896G>A, NM_001352592.1:c.896G>A, NM_001352591.2:c.821G>A, NM_001352591.1:c.821G>A, NM_001352595.2:c.395G>A, NM_001352595.1:c.395G>A, XM_024452081.2:c.821G>A, XM_024452081.1:c.821G>A, NM_001352593.2:c.821G>A, NM_001352593.1:c.821G>A, NM_001352594.2:c.821G>A, NM_001352594.1:c.821G>A, NM_001352596.2:c.821G>A, NM_001352596.1:c.821G>A, NM_001352597.2:c.896G>A, NM_001352597.1:c.896G>A, XM_047440784.1:c.896G>A, XM_047440785.1:c.821G>A, NP_004531.2:p.Ser274Asn, XP_011527877.1:p.Ser299Asn, XP_011527883.1:p.Ser299Asn, XP_011527882.1:p.Ser299Asn, XP_011527884.1:p.Ser299Asn, XP_016883845.1:p.Ser110Asn, XP_011527887.1:p.Ser110Asn, NP_001339521.1:p.Ser299Asn, NP_001339520.1:p.Ser274Asn, NP_001339524.1:p.Ser132Asn, XP_024307849.1:p.Ser274Asn, NP_001339522.1:p.Ser274Asn, NP_001339523.1:p.Ser274Asn, NP_001339525.1:p.Ser274Asn, NP_001339526.1:p.Ser299Asn, XP_047296740.1:p.Ser299Asn, XP_047296741.1:p.Ser274Asn

Select item 14838123017.

rs1483812301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:21509054 (GRCh38)
21:22881375 (GRCh37)
Canonical SPDI:: NC_000021.9:21509053:C:T
Gene:: NCAM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.21509054C>T, NC_000021.8:g.22881375C>T, NM_004540.5:c.2281C>T, NM_004540.4:c.2281C>T, NM_004540.3:c.2281C>T, XM_011529575.4:c.2356C>T, XM_011529575.3:c.2356C>T, XM_011529575.2:c.2356C>T, XM_011529575.1:c.2356C>T, XM_017028356.3:c.1789C>T, XM_017028356.2:c.1789C>T, XM_017028356.1:c.1789C>T, XM_011529585.3:c.1789C>T, XM_011529585.2:c.1789C>T, XM_011529585.1:c.1789C>T, NM_001352592.2:c.2356C>T, NM_001352592.1:c.2356C>T, NM_001352591.2:c.2281C>T, NM_001352591.1:c.2281C>T, NM_001352595.2:c.1855C>T, NM_001352595.1:c.1855C>T, XM_047440784.1:c.2356C>T

Select item 14815445368.

rs1481544536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:21410459 (GRCh38)
21:22782779 (GRCh37)
Canonical SPDI:: NC_000021.9:21410458:G:C
Gene:: NCAM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.21410459G>C, NC_000021.8:g.22782779G>C, NM_004540.5:c.1381G>C, NM_004540.4:c.1381G>C, NM_004540.3:c.1381G>C, XM_011529575.4:c.1456G>C, XM_011529575.3:c.1456G>C, XM_011529575.2:c.1456G>C, XM_011529575.1:c.1456G>C, XM_011529581.4:c.1456G>C, XM_011529581.3:c.1456G>C, XM_011529581.2:c.1456G>C, XM_011529581.1:c.1456G>C, XM_011529580.4:c.1456G>C, XM_011529580.3:c.1456G>C, XM_011529580.2:c.1456G>C, XM_011529580.1:c.1456G>C, XM_011529582.4:c.1456G>C, XM_011529582.3:c.1456G>C, XM_011529582.2:c.1456G>C, XM_011529582.1:c.1456G>C, XM_017028356.3:c.889G>C, XM_017028356.2:c.889G>C, XM_017028356.1:c.889G>C, XM_011529585.3:c.889G>C, XM_011529585.2:c.889G>C, XM_011529585.1:c.889G>C, NM_001352592.2:c.1456G>C, NM_001352592.1:c.1456G>C, NM_001352591.2:c.1381G>C, NM_001352591.1:c.1381G>C, NM_001352595.2:c.955G>C, NM_001352595.1:c.955G>C, XM_024452081.2:c.1381G>C, XM_024452081.1:c.1381G>C, NM_001352593.2:c.1381G>C, NM_001352593.1:c.1381G>C, NM_001352594.2:c.1381G>C, NM_001352594.1:c.1381G>C, NM_001352596.2:c.1381G>C, NM_001352596.1:c.1381G>C, XM_047440784.1:c.1456G>C, XM_047440785.1:c.1381G>C, NP_004531.2:p.Glu461Gln, XP_011527877.1:p.Glu486Gln, XP_011527883.1:p.Glu486Gln, XP_011527882.1:p.Glu486Gln, XP_011527884.1:p.Glu486Gln, XP_016883845.1:p.Glu297Gln, XP_011527887.1:p.Glu297Gln, NP_001339521.1:p.Glu486Gln, NP_001339520.1:p.Glu461Gln, NP_001339524.1:p.Glu319Gln, XP_024307849.1:p.Glu461Gln, NP_001339522.1:p.Glu461Gln, NP_001339523.1:p.Glu461Gln, NP_001339525.1:p.Glu461Gln, XP_047296740.1:p.Glu486Gln, XP_047296741.1:p.Glu461Gln

Select item 14799476209.

rs1479947620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:21432263 (GRCh38)
21:22804583 (GRCh37)
Canonical SPDI:: NC_000021.9:21432262:C:T
Gene:: NCAM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000389/7 (TOMMO)
HGVS:: NC_000021.9:g.21432263C>T, NC_000021.8:g.22804583C>T, NM_004540.5:c.1636C>T, NM_004540.4:c.1636C>T, NM_004540.3:c.1636C>T, XM_011529575.4:c.1711C>T, XM_011529575.3:c.1711C>T, XM_011529575.2:c.1711C>T, XM_011529575.1:c.1711C>T, XM_011529581.4:c.1711C>T, XM_011529581.3:c.1711C>T, XM_011529581.2:c.1711C>T, XM_011529581.1:c.1711C>T, XM_011529580.4:c.1711C>T, XM_011529580.3:c.1711C>T, XM_011529580.2:c.1711C>T, XM_011529580.1:c.1711C>T, XM_011529582.4:c.1711C>T, XM_011529582.3:c.1711C>T, XM_011529582.2:c.1711C>T, XM_011529582.1:c.1711C>T, XM_017028356.3:c.1144C>T, XM_017028356.2:c.1144C>T, XM_017028356.1:c.1144C>T, XM_011529585.3:c.1144C>T, XM_011529585.2:c.1144C>T, XM_011529585.1:c.1144C>T, NM_001352592.2:c.1711C>T, NM_001352592.1:c.1711C>T, NM_001352591.2:c.1636C>T, NM_001352591.1:c.1636C>T, NM_001352595.2:c.1210C>T, NM_001352595.1:c.1210C>T, XM_024452081.2:c.1636C>T, XM_024452081.1:c.1636C>T, NM_001352593.2:c.1636C>T, NM_001352593.1:c.1636C>T, NM_001352594.2:c.1636C>T, NM_001352594.1:c.1636C>T, NM_001352596.2:c.1636C>T, NM_001352596.1:c.1636C>T, XM_047440784.1:c.1711C>T, XM_047440785.1:c.1636C>T, NP_004531.2:p.Arg546Cys, XP_011527877.1:p.Arg571Cys, XP_011527883.1:p.Arg571Cys, XP_011527882.1:p.Arg571Cys, XP_011527884.1:p.Arg571Cys, XP_016883845.1:p.Arg382Cys, XP_011527887.1:p.Arg382Cys, NP_001339521.1:p.Arg571Cys, NP_001339520.1:p.Arg546Cys, NP_001339524.1:p.Arg404Cys, XP_024307849.1:p.Arg546Cys, NP_001339522.1:p.Arg546Cys, NP_001339523.1:p.Arg546Cys, NP_001339525.1:p.Arg546Cys, XP_047296740.1:p.Arg571Cys, XP_047296741.1:p.Arg546Cys

Select item 147975790410.

rs1479757904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:21210684 (GRCh38)
21:22583003 (GRCh37)
Canonical SPDI:: NC_000021.9:21210683:C:T
Gene:: NCAM2 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000021.9:g.21210684C>T, NC_000021.8:g.22583003C>T, XM_011529575.4:c.123C>T, XM_011529575.3:c.123C>T, XM_011529575.2:c.123C>T, XM_011529575.1:c.123C>T, XM_011529581.4:c.123C>T, XM_011529581.3:c.123C>T, XM_011529581.2:c.123C>T, XM_011529581.1:c.123C>T, XM_011529580.4:c.123C>T, XM_011529580.3:c.123C>T, XM_011529580.2:c.123C>T, XM_011529580.1:c.123C>T, XM_011529582.4:c.123C>T, XM_011529582.3:c.123C>T, XM_011529582.2:c.123C>T, XM_011529582.1:c.123C>T, NM_001352592.2:c.123C>T, NM_001352592.1:c.123C>T, NM_001352597.2:c.123C>T, NM_001352597.1:c.123C>T, XM_047440784.1:c.123C>T

Select item 147882627011.

rs1478826270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:21292111 (GRCh38)
21:22664431 (GRCh37)
Canonical SPDI:: NC_000021.9:21292110:C:T
Gene:: NCAM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000021.9:g.21292111C>T, NC_000021.8:g.22664431C>T, NM_004540.5:c.489C>T, NM_004540.4:c.489C>T, NM_004540.3:c.489C>T, XM_011529575.4:c.564C>T, XM_011529575.3:c.564C>T, XM_011529575.2:c.564C>T, XM_011529575.1:c.564C>T, XM_011529581.4:c.564C>T, XM_011529581.3:c.564C>T, XM_011529581.2:c.564C>T, XM_011529581.1:c.564C>T, XM_011529580.4:c.564C>T, XM_011529580.3:c.564C>T, XM_011529580.2:c.564C>T, XM_011529580.1:c.564C>T, XM_011529582.4:c.564C>T, XM_011529582.3:c.564C>T, XM_011529582.2:c.564C>T, XM_011529582.1:c.564C>T, XM_017028356.3:c.-4C>T, XM_017028356.2:c.-4C>T, XM_017028356.1:c.-4C>T, XM_011529585.3:c.-4C>T, XM_011529585.2:c.-4C>T, XM_011529585.1:c.-4C>T, NM_001352592.2:c.564C>T, NM_001352592.1:c.564C>T, NM_001352591.2:c.489C>T, NM_001352591.1:c.489C>T, NM_001352595.2:c.63C>T, NM_001352595.1:c.63C>T, XM_024452081.2:c.489C>T, XM_024452081.1:c.489C>T, NM_001352593.2:c.489C>T, NM_001352593.1:c.489C>T, NM_001352594.2:c.489C>T, NM_001352594.1:c.489C>T, NM_001352596.2:c.489C>T, NM_001352596.1:c.489C>T, NM_001352597.2:c.564C>T, NM_001352597.1:c.564C>T, XM_047440784.1:c.564C>T, XM_047440785.1:c.489C>T

Select item 147846414112.

rs1478464141 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:21534656 (GRCh38)
21:22906977 (GRCh37)
Canonical SPDI:: NC_000021.9:21534655:A:T
Gene:: NCAM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.21534656A>T, NC_000021.8:g.22906977A>T, NM_004540.5:c.2402A>T, NM_004540.4:c.2402A>T, NM_004540.3:c.2402A>T, XM_011529575.4:c.2477A>T, XM_011529575.3:c.2477A>T, XM_011529575.2:c.2477A>T, XM_011529575.1:c.2477A>T, XM_017028356.3:c.1910A>T, XM_017028356.2:c.1910A>T, XM_017028356.1:c.1910A>T, XM_011529585.3:c.1910A>T, XM_011529585.2:c.1910A>T, XM_011529585.1:c.1910A>T, NM_001352592.2:c.2477A>T, NM_001352592.1:c.2477A>T, NM_001352591.2:c.2402A>T, NM_001352591.1:c.2402A>T, NM_001352595.2:c.1976A>T, NM_001352595.1:c.1976A>T, XM_047440784.1:c.2477A>T, NP_004531.2:p.Glu801Val, XP_011527877.1:p.Glu826Val, XP_016883845.1:p.Glu637Val, XP_011527887.1:p.Glu637Val, NP_001339521.1:p.Glu826Val, NP_001339520.1:p.Glu801Val, NP_001339524.1:p.Glu659Val, XP_047296740.1:p.Glu826Val

Select item 147729544913.

rs1477295449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:21410364 (GRCh38)
21:22782684 (GRCh37)
Canonical SPDI:: NC_000021.9:21410363:C:T
Gene:: NCAM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.21410364C>T, NC_000021.8:g.22782684C>T, NM_004540.5:c.1286C>T, NM_004540.4:c.1286C>T, NM_004540.3:c.1286C>T, XM_011529575.4:c.1361C>T, XM_011529575.3:c.1361C>T, XM_011529575.2:c.1361C>T, XM_011529575.1:c.1361C>T, XM_011529581.4:c.1361C>T, XM_011529581.3:c.1361C>T, XM_011529581.2:c.1361C>T, XM_011529581.1:c.1361C>T, XM_011529580.4:c.1361C>T, XM_011529580.3:c.1361C>T, XM_011529580.2:c.1361C>T, XM_011529580.1:c.1361C>T, XM_011529582.4:c.1361C>T, XM_011529582.3:c.1361C>T, XM_011529582.2:c.1361C>T, XM_011529582.1:c.1361C>T, XM_017028356.3:c.794C>T, XM_017028356.2:c.794C>T, XM_017028356.1:c.794C>T, XM_011529585.3:c.794C>T, XM_011529585.2:c.794C>T, XM_011529585.1:c.794C>T, NM_001352592.2:c.1361C>T, NM_001352592.1:c.1361C>T, NM_001352591.2:c.1286C>T, NM_001352591.1:c.1286C>T, NM_001352595.2:c.860C>T, NM_001352595.1:c.860C>T, XM_024452081.2:c.1286C>T, XM_024452081.1:c.1286C>T, NM_001352593.2:c.1286C>T, NM_001352593.1:c.1286C>T, NM_001352594.2:c.1286C>T, NM_001352594.1:c.1286C>T, NM_001352596.2:c.1286C>T, NM_001352596.1:c.1286C>T, XM_047440784.1:c.1361C>T, XM_047440785.1:c.1286C>T, NP_004531.2:p.Pro429Leu, XP_011527877.1:p.Pro454Leu, XP_011527883.1:p.Pro454Leu, XP_011527882.1:p.Pro454Leu, XP_011527884.1:p.Pro454Leu, XP_016883845.1:p.Pro265Leu, XP_011527887.1:p.Pro265Leu, NP_001339521.1:p.Pro454Leu, NP_001339520.1:p.Pro429Leu, NP_001339524.1:p.Pro287Leu, XP_024307849.1:p.Pro429Leu, NP_001339522.1:p.Pro429Leu, NP_001339523.1:p.Pro429Leu, NP_001339525.1:p.Pro429Leu, XP_047296740.1:p.Pro454Leu, XP_047296741.1:p.Pro429Leu

Select item 147728220614.

rs1477282206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:21335600 (GRCh38)
21:22707920 (GRCh37)
Canonical SPDI:: NC_000021.9:21335599:C:G
Gene:: NCAM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.21335600C>G, NC_000021.8:g.22707920C>G, NM_004540.5:c.833C>G, NM_004540.4:c.833C>G, NM_004540.3:c.833C>G, XM_011529575.4:c.908C>G, XM_011529575.3:c.908C>G, XM_011529575.2:c.908C>G, XM_011529575.1:c.908C>G, XM_011529581.4:c.908C>G, XM_011529581.3:c.908C>G, XM_011529581.2:c.908C>G, XM_011529581.1:c.908C>G, XM_011529580.4:c.908C>G, XM_011529580.3:c.908C>G, XM_011529580.2:c.908C>G, XM_011529580.1:c.908C>G, XM_011529582.4:c.908C>G, XM_011529582.3:c.908C>G, XM_011529582.2:c.908C>G, XM_011529582.1:c.908C>G, XM_017028356.3:c.341C>G, XM_017028356.2:c.341C>G, XM_017028356.1:c.341C>G, XM_011529585.3:c.341C>G, XM_011529585.2:c.341C>G, XM_011529585.1:c.341C>G, NM_001352592.2:c.908C>G, NM_001352592.1:c.908C>G, NM_001352591.2:c.833C>G, NM_001352591.1:c.833C>G, NM_001352595.2:c.407C>G, NM_001352595.1:c.407C>G, XM_024452081.2:c.833C>G, XM_024452081.1:c.833C>G, NM_001352593.2:c.833C>G, NM_001352593.1:c.833C>G, NM_001352594.2:c.833C>G, NM_001352594.1:c.833C>G, NM_001352596.2:c.833C>G, NM_001352596.1:c.833C>G, NM_001352597.2:c.908C>G, NM_001352597.1:c.908C>G, XM_047440784.1:c.908C>G, XM_047440785.1:c.833C>G, NP_004531.2:p.Pro278Arg, XP_011527877.1:p.Pro303Arg, XP_011527883.1:p.Pro303Arg, XP_011527882.1:p.Pro303Arg, XP_011527884.1:p.Pro303Arg, XP_016883845.1:p.Pro114Arg, XP_011527887.1:p.Pro114Arg, NP_001339521.1:p.Pro303Arg, NP_001339520.1:p.Pro278Arg, NP_001339524.1:p.Pro136Arg, XP_024307849.1:p.Pro278Arg, NP_001339522.1:p.Pro278Arg, NP_001339523.1:p.Pro278Arg, NP_001339525.1:p.Pro278Arg, NP_001339526.1:p.Pro303Arg, XP_047296740.1:p.Pro303Arg, XP_047296741.1:p.Pro278Arg

Select item 147613271815.

rs1476132718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:21210682 (GRCh38)
21:22583001 (GRCh37)
Canonical SPDI:: NC_000021.9:21210681:T:C
Gene:: NCAM2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.21210682T>C, NC_000021.8:g.22583001T>C, XM_011529575.4:c.121T>C, XM_011529575.3:c.121T>C, XM_011529575.2:c.121T>C, XM_011529575.1:c.121T>C, XM_011529581.4:c.121T>C, XM_011529581.3:c.121T>C, XM_011529581.2:c.121T>C, XM_011529581.1:c.121T>C, XM_011529580.4:c.121T>C, XM_011529580.3:c.121T>C, XM_011529580.2:c.121T>C, XM_011529580.1:c.121T>C, XM_011529582.4:c.121T>C, XM_011529582.3:c.121T>C, XM_011529582.2:c.121T>C, XM_011529582.1:c.121T>C, NM_001352592.2:c.121T>C, NM_001352592.1:c.121T>C, NM_001352597.2:c.121T>C, NM_001352597.1:c.121T>C, XM_047440784.1:c.121T>C, XP_011527877.1:p.Tyr41His, XP_011527883.1:p.Tyr41His, XP_011527882.1:p.Tyr41His, XP_011527884.1:p.Tyr41His, NP_001339521.1:p.Tyr41His, NP_001339526.1:p.Tyr41His, XP_047296740.1:p.Tyr41His

Select item 147533323216.

rs1475333232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:21210578 (GRCh38)
21:22582897 (GRCh37)
Canonical SPDI:: NC_000021.9:21210577:C:G
Gene:: NCAM2 (Varview)
Functional Consequence:: stop_gained,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000021.9:g.21210578C>G, NC_000021.8:g.22582897C>G, XM_011529575.4:c.17C>G, XM_011529575.3:c.17C>G, XM_011529575.2:c.17C>G, XM_011529575.1:c.17C>G, XM_011529581.4:c.17C>G, XM_011529581.3:c.17C>G, XM_011529581.2:c.17C>G, XM_011529581.1:c.17C>G, XM_011529580.4:c.17C>G, XM_011529580.3:c.17C>G, XM_011529580.2:c.17C>G, XM_011529580.1:c.17C>G, XM_011529582.4:c.17C>G, XM_011529582.3:c.17C>G, XM_011529582.2:c.17C>G, XM_011529582.1:c.17C>G, NM_001352592.2:c.17C>G, NM_001352592.1:c.17C>G, NM_001352597.2:c.17C>G, NM_001352597.1:c.17C>G, XM_047440784.1:c.17C>G, XP_011527877.1:p.Ser6Ter, XP_011527883.1:p.Ser6Ter, XP_011527882.1:p.Ser6Ter, XP_011527884.1:p.Ser6Ter, NP_001339521.1:p.Ser6Ter, NP_001339526.1:p.Ser6Ter, XP_047296740.1:p.Ser6Ter

Select item 147493454717.

rs1474934547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:21466719 (GRCh38)
21:22839040 (GRCh37)
Canonical SPDI:: NC_000021.9:21466718:C:G,NC_000021.9:21466718:C:T
Gene:: NCAM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.21466719C>G, NC_000021.9:g.21466719C>T, NC_000021.8:g.22839040C>G, NC_000021.8:g.22839040C>T, NM_004540.5:c.1768C>G, NM_004540.5:c.1768C>T, NM_004540.4:c.1768C>G, NM_004540.4:c.1768C>T, NM_004540.3:c.1768C>G, NM_004540.3:c.1768C>T, XM_011529575.4:c.1843C>G, XM_011529575.4:c.1843C>T, XM_011529575.3:c.1843C>G, XM_011529575.3:c.1843C>T, XM_011529575.2:c.1843C>G, XM_011529575.2:c.1843C>T, XM_011529575.1:c.1843C>G, XM_011529575.1:c.1843C>T, XM_011529581.4:c.1843C>G, XM_011529581.4:c.1843C>T, XM_011529581.3:c.1843C>G, XM_011529581.3:c.1843C>T, XM_011529581.2:c.1843C>G, XM_011529581.2:c.1843C>T, XM_011529581.1:c.1843C>G, XM_011529581.1:c.1843C>T, XM_011529580.4:c.1843C>G, XM_011529580.4:c.1843C>T, XM_011529580.3:c.1843C>G, XM_011529580.3:c.1843C>T, XM_011529580.2:c.1843C>G, XM_011529580.2:c.1843C>T, XM_011529580.1:c.1843C>G, XM_011529580.1:c.1843C>T, XM_011529582.4:c.1843C>G, XM_011529582.4:c.1843C>T, XM_011529582.3:c.1843C>G, XM_011529582.3:c.1843C>T, XM_011529582.2:c.1843C>G, XM_011529582.2:c.1843C>T, XM_011529582.1:c.1843C>G, XM_011529582.1:c.1843C>T, XM_017028356.3:c.1276C>G, XM_017028356.3:c.1276C>T, XM_017028356.2:c.1276C>G, XM_017028356.2:c.1276C>T, XM_017028356.1:c.1276C>G, XM_017028356.1:c.1276C>T, XM_011529585.3:c.1276C>G, XM_011529585.3:c.1276C>T, XM_011529585.2:c.1276C>G, XM_011529585.2:c.1276C>T, XM_011529585.1:c.1276C>G, XM_011529585.1:c.1276C>T, NM_001352592.2:c.1843C>G, NM_001352592.2:c.1843C>T, NM_001352592.1:c.1843C>G, NM_001352592.1:c.1843C>T, NM_001352591.2:c.1768C>G, NM_001352591.2:c.1768C>T, NM_001352591.1:c.1768C>G, NM_001352591.1:c.1768C>T, NM_001352595.2:c.1342C>G, NM_001352595.2:c.1342C>T, NM_001352595.1:c.1342C>G, NM_001352595.1:c.1342C>T, XM_024452081.2:c.1768C>G, XM_024452081.2:c.1768C>T, XM_024452081.1:c.1768C>G, XM_024452081.1:c.1768C>T, NM_001352593.2:c.1768C>G, NM_001352593.2:c.1768C>T, NM_001352593.1:c.1768C>G, NM_001352593.1:c.1768C>T, NM_001352594.2:c.1768C>G, NM_001352594.2:c.1768C>T, NM_001352594.1:c.1768C>G, NM_001352594.1:c.1768C>T, XM_047440784.1:c.1843C>G, XM_047440784.1:c.1843C>T, XM_047440785.1:c.1768C>G, XM_047440785.1:c.1768C>T, NP_004531.2:p.Pro590Ala, NP_004531.2:p.Pro590Ser, XP_011527877.1:p.Pro615Ala, XP_011527877.1:p.Pro615Ser, XP_011527883.1:p.Pro615Ala, XP_011527883.1:p.Pro615Ser, XP_011527882.1:p.Pro615Ala, XP_011527882.1:p.Pro615Ser, XP_011527884.1:p.Pro615Ala, XP_011527884.1:p.Pro615Ser, XP_016883845.1:p.Pro426Ala, XP_016883845.1:p.Pro426Ser, XP_011527887.1:p.Pro426Ala, XP_011527887.1:p.Pro426Ser, NP_001339521.1:p.Pro615Ala, NP_001339521.1:p.Pro615Ser, NP_001339520.1:p.Pro590Ala, NP_001339520.1:p.Pro590Ser, NP_001339524.1:p.Pro448Ala, NP_001339524.1:p.Pro448Ser, XP_024307849.1:p.Pro590Ala, XP_024307849.1:p.Pro590Ser, NP_001339522.1:p.Pro590Ala, NP_001339522.1:p.Pro590Ser, NP_001339523.1:p.Pro590Ala, NP_001339523.1:p.Pro590Ser, XP_047296740.1:p.Pro615Ala, XP_047296740.1:p.Pro615Ser, XP_047296741.1:p.Pro590Ala, XP_047296741.1:p.Pro590Ser

Select item 147409440418.

rs1474094404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:21537878 (GRCh38)
21:22910199 (GRCh37)
Canonical SPDI:: NC_000021.9:21537877:A:G
Gene:: NCAM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.21537878A>G, NC_000021.8:g.22910199A>G, NM_004540.5:c.2435A>G, NM_004540.4:c.2435A>G, NM_004540.3:c.2435A>G, XM_011529575.4:c.2546A>G, XM_011529575.3:c.2546A>G, XM_011529575.2:c.2546A>G, XM_011529575.1:c.2546A>G, XM_017028356.3:c.1979A>G, XM_017028356.2:c.1979A>G, XM_017028356.1:c.1979A>G, XM_011529585.3:c.1979A>G, XM_011529585.2:c.1979A>G, XM_011529585.1:c.1979A>G, NM_001352592.2:c.2510A>G, NM_001352592.1:c.2510A>G, NM_001352591.2:c.2471A>G, NM_001352591.1:c.2471A>G, NM_001352595.2:c.2009A>G, NM_001352595.1:c.2009A>G, XM_047440784.1:c.2510A>G, NP_004531.2:p.Glu812Gly, XP_011527877.1:p.Glu849Gly, XP_016883845.1:p.Glu660Gly, XP_011527887.1:p.Glu660Gly, NP_001339521.1:p.Glu837Gly, NP_001339520.1:p.Glu824Gly, NP_001339524.1:p.Glu670Gly, XP_047296740.1:p.Glu837Gly

Select item 147340006519.

rs1473400065 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:21508997 (GRCh38)
21:22881318 (GRCh37)
Canonical SPDI:: NC_000021.9:21508996:A:G
Gene:: NCAM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.21508997A>G, NC_000021.8:g.22881318A>G, NM_004540.5:c.2224A>G, NM_004540.4:c.2224A>G, NM_004540.3:c.2224A>G, XM_011529575.4:c.2299A>G, XM_011529575.3:c.2299A>G, XM_011529575.2:c.2299A>G, XM_011529575.1:c.2299A>G, XM_017028356.3:c.1732A>G, XM_017028356.2:c.1732A>G, XM_017028356.1:c.1732A>G, XM_011529585.3:c.1732A>G, XM_011529585.2:c.1732A>G, XM_011529585.1:c.1732A>G, NM_001352592.2:c.2299A>G, NM_001352592.1:c.2299A>G, NM_001352591.2:c.2224A>G, NM_001352591.1:c.2224A>G, NM_001352595.2:c.1798A>G, NM_001352595.1:c.1798A>G, XM_047440784.1:c.2299A>G, NP_004531.2:p.Lys742Glu, XP_011527877.1:p.Lys767Glu, XP_016883845.1:p.Lys578Glu, XP_011527887.1:p.Lys578Glu, NP_001339521.1:p.Lys767Glu, NP_001339520.1:p.Lys742Glu, NP_001339524.1:p.Lys600Glu, XP_047296740.1:p.Lys767Glu

Select item 147333007720.

rs1473330077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:21432140 (GRCh38)
21:22804460 (GRCh37)
Canonical SPDI:: NC_000021.9:21432139:A:G
Gene:: NCAM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.21432140A>G, NC_000021.8:g.22804460A>G, NM_004540.5:c.1513A>G, NM_004540.4:c.1513A>G, NM_004540.3:c.1513A>G, XM_011529575.4:c.1588A>G, XM_011529575.3:c.1588A>G, XM_011529575.2:c.1588A>G, XM_011529575.1:c.1588A>G, XM_011529581.4:c.1588A>G, XM_011529581.3:c.1588A>G, XM_011529581.2:c.1588A>G, XM_011529581.1:c.1588A>G, XM_011529580.4:c.1588A>G, XM_011529580.3:c.1588A>G, XM_011529580.2:c.1588A>G, XM_011529580.1:c.1588A>G, XM_011529582.4:c.1588A>G, XM_011529582.3:c.1588A>G, XM_011529582.2:c.1588A>G, XM_011529582.1:c.1588A>G, XM_017028356.3:c.1021A>G, XM_017028356.2:c.1021A>G, XM_017028356.1:c.1021A>G, XM_011529585.3:c.1021A>G, XM_011529585.2:c.1021A>G, XM_011529585.1:c.1021A>G, NM_001352592.2:c.1588A>G, NM_001352592.1:c.1588A>G, NM_001352591.2:c.1513A>G, NM_001352591.1:c.1513A>G, NM_001352595.2:c.1087A>G, NM_001352595.1:c.1087A>G, XM_024452081.2:c.1513A>G, XM_024452081.1:c.1513A>G, NM_001352593.2:c.1513A>G, NM_001352593.1:c.1513A>G, NM_001352594.2:c.1513A>G, NM_001352594.1:c.1513A>G, NM_001352596.2:c.1513A>G, NM_001352596.1:c.1513A>G, XM_047440784.1:c.1588A>G, XM_047440785.1:c.1513A>G, NP_004531.2:p.Ile505Val, XP_011527877.1:p.Ile530Val, XP_011527883.1:p.Ile530Val, XP_011527882.1:p.Ile530Val, XP_011527884.1:p.Ile530Val, XP_016883845.1:p.Ile341Val, XP_011527887.1:p.Ile341Val, NP_001339521.1:p.Ile530Val, NP_001339520.1:p.Ile505Val, NP_001339524.1:p.Ile363Val, XP_024307849.1:p.Ile505Val, NP_001339522.1:p.Ile505Val, NP_001339523.1:p.Ile505Val, NP_001339525.1:p.Ile505Val, XP_047296740.1:p.Ile530Val, XP_047296741.1:p.Ile505Val

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