SNP Links for Protein (Select 58294158) - SNP

Links from Protein

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Select item 14893345581.

rs1489334558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:50876531 (GRCh38)
20:49493068 (GRCh37)
Canonical SPDI:: NC_000020.11:50876530:T:A
Gene:: BCAS4 (Varview), LOC124904929 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50876531T>A, NC_000020.10:g.49493068T>A, NM_017843.4:c.632T>A, NM_017843.3:c.632T>A, NM_198799.4:c.445T>A, NM_198799.3:c.535T>A, NM_198799.2:c.535T>A, XM_011528887.3:c.535T>A, XM_011528887.2:c.535T>A, XM_011528887.1:c.535T>A, XM_011528886.3:c.*69T>A, XM_011528886.2:c.*69T>A, XM_011528886.1:c.*69T>A, NM_001010974.2:c.400T>A, NM_001010974.1:c.400T>A, NP_060313.3:p.Val211Glu, NP_942094.3:p.Tyr149Asn, XP_011527189.1:p.Tyr179Asn, NP_001010974.1:p.Tyr134Asn

Select item 14817203022.

rs1481720302 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:50830350 (GRCh38)
20:49446887 (GRCh37)
Canonical SPDI:: NC_000020.11:50830349:T:C
Gene:: BCAS4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.50830350T>C, NC_000020.10:g.49446887T>C, NM_017843.4:c.324T>C, NM_017843.3:c.324T>C, NM_198799.4:c.234T>C, NM_198799.3:c.324T>C, NM_198799.2:c.324T>C, XM_011528887.3:c.324T>C, XM_011528887.2:c.324T>C, XM_011528887.1:c.324T>C, XM_011528886.3:c.324T>C, XM_011528886.2:c.324T>C, XM_011528886.1:c.324T>C, XM_017027932.2:c.324T>C, XM_017027932.1:c.324T>C, NM_001010974.2:c.324T>C, NM_001010974.1:c.324T>C

Select item 14736822083.

rs1473682208 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 20:50795118 (GRCh38)
20:49411655 (GRCh37)
Canonical SPDI:: NC_000020.11:50795117:T:A,NC_000020.11:50795117:T:C,NC_000020.11:50795117:T:G
Gene:: BCAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000009/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.50795118T>A, NC_000020.11:g.50795118T>C, NC_000020.11:g.50795118T>G, NC_000020.10:g.49411655T>A, NC_000020.10:g.49411655T>C, NC_000020.10:g.49411655T>G, NM_017843.4:c.125T>A, NM_017843.4:c.125T>C, NM_017843.4:c.125T>G, NM_017843.3:c.125T>A, NM_017843.3:c.125T>C, NM_017843.3:c.125T>G, NM_198799.4:c.35T>A, NM_198799.4:c.35T>C, NM_198799.4:c.35T>G, NM_198799.3:c.125T>A, NM_198799.3:c.125T>C, NM_198799.3:c.125T>G, NM_198799.2:c.125T>A, NM_198799.2:c.125T>C, NM_198799.2:c.125T>G, XM_011528887.3:c.125T>A, XM_011528887.3:c.125T>C, XM_011528887.3:c.125T>G, XM_011528887.2:c.125T>A, XM_011528887.2:c.125T>C, XM_011528887.2:c.125T>G, XM_011528887.1:c.125T>A, XM_011528887.1:c.125T>C, XM_011528887.1:c.125T>G, XM_011528886.3:c.125T>A, XM_011528886.3:c.125T>C, XM_011528886.3:c.125T>G, XM_011528886.2:c.125T>A, XM_011528886.2:c.125T>C, XM_011528886.2:c.125T>G, XM_011528886.1:c.125T>A, XM_011528886.1:c.125T>C, XM_011528886.1:c.125T>G, XM_017027932.2:c.125T>A, XM_017027932.2:c.125T>C, XM_017027932.2:c.125T>G, XM_017027932.1:c.125T>A, XM_017027932.1:c.125T>C, XM_017027932.1:c.125T>G, NM_001010974.2:c.125T>A, NM_001010974.2:c.125T>C, NM_001010974.2:c.125T>G, NM_001010974.1:c.125T>A, NM_001010974.1:c.125T>C, NM_001010974.1:c.125T>G, XM_047440278.1:c.125T>A, XM_047440278.1:c.125T>C, XM_047440278.1:c.125T>G, NP_060313.3:p.Met42Lys, NP_060313.3:p.Met42Thr, NP_060313.3:p.Met42Arg, NP_942094.3:p.Met12Lys, NP_942094.3:p.Met12Thr, NP_942094.3:p.Met12Arg, XP_011527189.1:p.Met42Lys, XP_011527189.1:p.Met42Thr, XP_011527189.1:p.Met42Arg, XP_011527188.1:p.Met42Lys, XP_011527188.1:p.Met42Thr, XP_011527188.1:p.Met42Arg, XP_016883421.1:p.Met42Lys, XP_016883421.1:p.Met42Thr, XP_016883421.1:p.Met42Arg, NP_001010974.1:p.Met42Lys, NP_001010974.1:p.Met42Thr, NP_001010974.1:p.Met42Arg, XP_047296234.1:p.Met42Lys, XP_047296234.1:p.Met42Thr, XP_047296234.1:p.Met42Arg

Select item 14699308984.

rs1469930898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:50795062 (GRCh38)
20:49411599 (GRCh37)
Canonical SPDI:: NC_000020.11:50795061:G:C
Gene:: BCAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_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_000020.11:g.50795062G>C, NC_000020.10:g.49411599G>C, NM_017843.4:c.69G>C, NM_017843.3:c.69G>C, NM_198799.4:c.-22G>C, NM_198799.3:c.69G>C, NM_198799.2:c.69G>C, XM_011528887.3:c.69G>C, XM_011528887.2:c.69G>C, XM_011528887.1:c.69G>C, XM_011528886.3:c.69G>C, XM_011528886.2:c.69G>C, XM_011528886.1:c.69G>C, XM_017027932.2:c.69G>C, XM_017027932.1:c.69G>C, NM_001010974.2:c.69G>C, NM_001010974.1:c.69G>C, XM_047440278.1:c.69G>C, NP_060313.3:p.Gln23His, XP_011527189.1:p.Gln23His, XP_011527188.1:p.Gln23His, XP_016883421.1:p.Gln23His, NP_001010974.1:p.Gln23His, XP_047296234.1:p.Gln23His

Select item 14696484765.

rs1469648476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:50795052 (GRCh38)
20:49411589 (GRCh37)
Canonical SPDI:: NC_000020.11:50795051:G:T
Gene:: BCAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000020.11:g.50795052G>T, NC_000020.10:g.49411589G>T, NM_017843.4:c.59G>T, NM_017843.3:c.59G>T, XM_011528887.3:c.59G>T, XM_011528887.2:c.59G>T, XM_011528887.1:c.59G>T, XM_011528886.3:c.59G>T, XM_011528886.2:c.59G>T, XM_011528886.1:c.59G>T, NM_198799.3:c.59G>T, XM_017027932.2:c.59G>T, XM_017027932.1:c.59G>T, NM_198799.2:c.59G>T, NM_001010974.2:c.59G>T, NM_001010974.1:c.59G>T, XM_047440278.1:c.59G>T, NP_060313.3:p.Ser20Ile, XP_011527189.1:p.Ser20Ile, XP_011527188.1:p.Ser20Ile, XP_016883421.1:p.Ser20Ile, NP_001010974.1:p.Ser20Ile, XP_047296234.1:p.Ser20Ile

Select item 14529343796.

rs1452934379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:50795133 (GRCh38)
20:49411670 (GRCh37)
Canonical SPDI:: NC_000020.11:50795132:G:A,NC_000020.11:50795132:G:C
Gene:: BCAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.50795133G>A, NC_000020.11:g.50795133G>C, NC_000020.10:g.49411670G>A, NC_000020.10:g.49411670G>C, NM_017843.4:c.140G>A, NM_017843.4:c.140G>C, NM_017843.3:c.140G>A, NM_017843.3:c.140G>C, NM_198799.4:c.50G>A, NM_198799.4:c.50G>C, NM_198799.3:c.140G>A, NM_198799.3:c.140G>C, NM_198799.2:c.140G>A, NM_198799.2:c.140G>C, XM_011528887.3:c.140G>A, XM_011528887.3:c.140G>C, XM_011528887.2:c.140G>A, XM_011528887.2:c.140G>C, XM_011528887.1:c.140G>A, XM_011528887.1:c.140G>C, XM_011528886.3:c.140G>A, XM_011528886.3:c.140G>C, XM_011528886.2:c.140G>A, XM_011528886.2:c.140G>C, XM_011528886.1:c.140G>A, XM_011528886.1:c.140G>C, XM_017027932.2:c.140G>A, XM_017027932.2:c.140G>C, XM_017027932.1:c.140G>A, XM_017027932.1:c.140G>C, NM_001010974.2:c.140G>A, NM_001010974.2:c.140G>C, NM_001010974.1:c.140G>A, NM_001010974.1:c.140G>C, XM_047440278.1:c.140G>A, XM_047440278.1:c.140G>C, NP_060313.3:p.Arg47His, NP_060313.3:p.Arg47Pro, NP_942094.3:p.Arg17His, NP_942094.3:p.Arg17Pro, XP_011527189.1:p.Arg47His, XP_011527189.1:p.Arg47Pro, XP_011527188.1:p.Arg47His, XP_011527188.1:p.Arg47Pro, XP_016883421.1:p.Arg47His, XP_016883421.1:p.Arg47Pro, NP_001010974.1:p.Arg47His, NP_001010974.1:p.Arg47Pro, XP_047296234.1:p.Arg47His, XP_047296234.1:p.Arg47Pro

Select item 14482092237.

rs1448209223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50795140 (GRCh38)
20:49411677 (GRCh37)
Canonical SPDI:: NC_000020.11:50795139:C:T
Gene:: BCAS4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50795140C>T, NC_000020.10:g.49411677C>T, NM_017843.4:c.147C>T, NM_017843.3:c.147C>T, NM_198799.4:c.57C>T, NM_198799.3:c.147C>T, NM_198799.2:c.147C>T, XM_011528887.3:c.147C>T, XM_011528887.2:c.147C>T, XM_011528887.1:c.147C>T, XM_011528886.3:c.147C>T, XM_011528886.2:c.147C>T, XM_011528886.1:c.147C>T, XM_017027932.2:c.147C>T, XM_017027932.1:c.147C>T, NM_001010974.2:c.147C>T, NM_001010974.1:c.147C>T, XM_047440278.1:c.147C>T

Select item 14476274918.

rs1447627491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:50795171 (GRCh38)
20:49411708 (GRCh37)
Canonical SPDI:: NC_000020.11:50795170:G:A
Gene:: BCAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.50795171G>A, NC_000020.10:g.49411708G>A, NM_017843.4:c.178G>A, NM_017843.3:c.178G>A, NM_198799.4:c.88G>A, NM_198799.3:c.178G>A, NM_198799.2:c.178G>A, XM_011528887.3:c.178G>A, XM_011528887.2:c.178G>A, XM_011528887.1:c.178G>A, XM_011528886.3:c.178G>A, XM_011528886.2:c.178G>A, XM_011528886.1:c.178G>A, XM_017027932.2:c.178G>A, XM_017027932.1:c.178G>A, NM_001010974.2:c.178G>A, NM_001010974.1:c.178G>A, XM_047440278.1:c.178G>A, NP_060313.3:p.Glu60Lys, NP_942094.3:p.Glu30Lys, XP_011527189.1:p.Glu60Lys, XP_011527188.1:p.Glu60Lys, XP_016883421.1:p.Glu60Lys, NP_001010974.1:p.Glu60Lys, XP_047296234.1:p.Glu60Lys

Select item 14473995029.

rs1447399502 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:50830322 (GRCh38)
20:49446859 (GRCh37)
Canonical SPDI:: NC_000020.11:50830321:T:G
Gene:: BCAS4 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.50830322T>G, NC_000020.10:g.49446859T>G, NM_017843.4:c.296T>G, NM_017843.3:c.296T>G, NM_198799.4:c.206T>G, NM_198799.3:c.296T>G, NM_198799.2:c.296T>G, XM_011528887.3:c.296T>G, XM_011528887.2:c.296T>G, XM_011528887.1:c.296T>G, XM_011528886.3:c.296T>G, XM_011528886.2:c.296T>G, XM_011528886.1:c.296T>G, XM_017027932.2:c.296T>G, XM_017027932.1:c.296T>G, NM_001010974.2:c.296T>G, NM_001010974.1:c.296T>G, NP_060313.3:p.Val99Gly, NP_942094.3:p.Val69Gly, XP_011527189.1:p.Val99Gly, XP_011527188.1:p.Val99Gly, XP_016883421.1:p.Val99Gly, NP_001010974.1:p.Val99Gly

Select item 144405801210.

rs1444058012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:50795168 (GRCh38)
20:49411705 (GRCh37)
Canonical SPDI:: NC_000020.11:50795167:G:T
Gene:: BCAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50795168G>T, NC_000020.10:g.49411705G>T, NM_017843.4:c.175G>T, NM_017843.3:c.175G>T, NM_198799.4:c.85G>T, NM_198799.3:c.175G>T, NM_198799.2:c.175G>T, XM_011528887.3:c.175G>T, XM_011528887.2:c.175G>T, XM_011528887.1:c.175G>T, XM_011528886.3:c.175G>T, XM_011528886.2:c.175G>T, XM_011528886.1:c.175G>T, XM_017027932.2:c.175G>T, XM_017027932.1:c.175G>T, NM_001010974.2:c.175G>T, NM_001010974.1:c.175G>T, XM_047440278.1:c.175G>T, NP_060313.3:p.Ala59Ser, NP_942094.3:p.Ala29Ser, XP_011527189.1:p.Ala59Ser, XP_011527188.1:p.Ala59Ser, XP_016883421.1:p.Ala59Ser, NP_001010974.1:p.Ala59Ser, XP_047296234.1:p.Ala59Ser

Select item 144329545711.

rs1443295457 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:50876533 (GRCh38)
20:49493070 (GRCh37)
Canonical SPDI:: NC_000020.11:50876532:T:C
Gene:: BCAS4 (Varview), LOC124904929 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,2KB_upstream_variant,stop_lost,terminator_codon_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50876533T>C, NC_000020.10:g.49493070T>C, NM_017843.4:c.634T>C, NM_017843.3:c.634T>C, NM_198799.4:c.447T>C, NM_198799.3:c.537T>C, NM_198799.2:c.537T>C, XM_011528887.3:c.537T>C, XM_011528887.2:c.537T>C, XM_011528887.1:c.537T>C, XM_011528886.3:c.*71T>C, XM_011528886.2:c.*71T>C, XM_011528886.1:c.*71T>C, NM_001010974.2:c.402T>C, NM_001010974.1:c.402T>C, NP_060313.3:p.Ter212Gln

Select item 144022026112.

rs1440220261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50795059 (GRCh38)
20:49411596 (GRCh37)
Canonical SPDI:: NC_000020.11:50795058:C:T
Gene:: BCAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.50795059C>T, NC_000020.10:g.49411596C>T, NM_017843.4:c.66C>T, NM_017843.3:c.66C>T, XM_011528887.3:c.66C>T, XM_011528887.2:c.66C>T, XM_011528887.1:c.66C>T, XM_011528886.3:c.66C>T, XM_011528886.2:c.66C>T, XM_011528886.1:c.66C>T, NM_198799.3:c.66C>T, XM_017027932.2:c.66C>T, XM_017027932.1:c.66C>T, NM_198799.2:c.66C>T, NM_001010974.2:c.66C>T, NM_001010974.1:c.66C>T, XM_047440278.1:c.66C>T

Select item 143951693713.

rs1439516937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50795044 (GRCh38)
20:49411581 (GRCh37)
Canonical SPDI:: NC_000020.11:50795043:C:T
Gene:: BCAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.50795044C>T, NC_000020.10:g.49411581C>T, NM_017843.4:c.51C>T, NM_017843.3:c.51C>T, XM_011528887.3:c.51C>T, XM_011528887.2:c.51C>T, XM_011528887.1:c.51C>T, XM_011528886.3:c.51C>T, XM_011528886.2:c.51C>T, XM_011528886.1:c.51C>T, NM_198799.3:c.51C>T, XM_017027932.2:c.51C>T, XM_017027932.1:c.51C>T, NM_198799.2:c.51C>T, NM_001010974.2:c.51C>T, NM_001010974.1:c.51C>T, XM_047440278.1:c.51C>T

Select item 143944007514.

rs1439440075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50795076 (GRCh38)
20:49411613 (GRCh37)
Canonical SPDI:: NC_000020.11:50795075:C:T
Gene:: BCAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50795076C>T, NC_000020.10:g.49411613C>T, NM_017843.4:c.83C>T, NM_017843.3:c.83C>T, NM_198799.4:c.-8C>T, NM_198799.3:c.83C>T, NM_198799.2:c.83C>T, XM_011528887.3:c.83C>T, XM_011528887.2:c.83C>T, XM_011528887.1:c.83C>T, XM_011528886.3:c.83C>T, XM_011528886.2:c.83C>T, XM_011528886.1:c.83C>T, XM_017027932.2:c.83C>T, XM_017027932.1:c.83C>T, NM_001010974.2:c.83C>T, NM_001010974.1:c.83C>T, XM_047440278.1:c.83C>T, NP_060313.3:p.Ala28Val, XP_011527189.1:p.Ala28Val, XP_011527188.1:p.Ala28Val, XP_016883421.1:p.Ala28Val, NP_001010974.1:p.Ala28Val, XP_047296234.1:p.Ala28Val

Select item 143745770615.

rs1437457706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:50795096 (GRCh38)
20:49411633 (GRCh37)
Canonical SPDI:: NC_000020.11:50795095:G:A
Gene:: BCAS4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.50795096G>A, NC_000020.10:g.49411633G>A, NM_017843.4:c.103G>A, NM_017843.3:c.103G>A, NM_198799.4:c.13G>A, NM_198799.3:c.103G>A, NM_198799.2:c.103G>A, XM_011528887.3:c.103G>A, XM_011528887.2:c.103G>A, XM_011528887.1:c.103G>A, XM_011528886.3:c.103G>A, XM_011528886.2:c.103G>A, XM_011528886.1:c.103G>A, XM_017027932.2:c.103G>A, XM_017027932.1:c.103G>A, NM_001010974.2:c.103G>A, NM_001010974.1:c.103G>A, XM_047440278.1:c.103G>A, NP_060313.3:p.Asp35Asn, NP_942094.3:p.Asp5Asn, XP_011527189.1:p.Asp35Asn, XP_011527188.1:p.Asp35Asn, XP_016883421.1:p.Asp35Asn, NP_001010974.1:p.Asp35Asn, XP_047296234.1:p.Asp35Asn

Select item 143652881616.

rs1436528816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50830336 (GRCh38)
20:49446873 (GRCh37)
Canonical SPDI:: NC_000020.11:50830335:C:T
Gene:: BCAS4 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.50830336C>T, NC_000020.10:g.49446873C>T, NM_017843.4:c.310C>T, NM_017843.3:c.310C>T, NM_198799.4:c.220C>T, NM_198799.3:c.310C>T, NM_198799.2:c.310C>T, XM_011528887.3:c.310C>T, XM_011528887.2:c.310C>T, XM_011528887.1:c.310C>T, XM_011528886.3:c.310C>T, XM_011528886.2:c.310C>T, XM_011528886.1:c.310C>T, XM_017027932.2:c.310C>T, XM_017027932.1:c.310C>T, NM_001010974.2:c.310C>T, NM_001010974.1:c.310C>T

Select item 142797651317.

rs1427976513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:50795063 (GRCh38)
20:49411600 (GRCh37)
Canonical SPDI:: NC_000020.11:50795062:C:G
Gene:: BCAS4 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.50795063C>G, NC_000020.10:g.49411600C>G, NM_017843.4:c.70C>G, NM_017843.3:c.70C>G, NM_198799.4:c.-21C>G, NM_198799.3:c.70C>G, NM_198799.2:c.70C>G, XM_011528887.3:c.70C>G, XM_011528887.2:c.70C>G, XM_011528887.1:c.70C>G, XM_011528886.3:c.70C>G, XM_011528886.2:c.70C>G, XM_011528886.1:c.70C>G, XM_017027932.2:c.70C>G, XM_017027932.1:c.70C>G, NM_001010974.2:c.70C>G, NM_001010974.1:c.70C>G, XM_047440278.1:c.70C>G, NP_060313.3:p.Pro24Ala, XP_011527189.1:p.Pro24Ala, XP_011527188.1:p.Pro24Ala, XP_016883421.1:p.Pro24Ala, NP_001010974.1:p.Pro24Ala, XP_047296234.1:p.Pro24Ala

Select item 142619297218.

rs1426192972 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 20:50795065 (GRCh38)
20:49411602 (GRCh37)
Canonical SPDI:: NC_000020.11:50795064:GG:G
Gene:: BCAS4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
-=0.00002/2 (GnomAD_exomes)
-=0.000053/14 (TOPMED)
-=0.000071/10 (GnomAD)
HGVS:: NC_000020.11:g.50795066del, NC_000020.10:g.49411603del, NM_017843.4:c.73del, NM_017843.3:c.73del, NM_198799.4:c.-18del, NM_198799.3:c.73del, NM_198799.2:c.73del, XM_011528887.3:c.73del, XM_011528887.2:c.73del, XM_011528887.1:c.73del, XM_011528886.3:c.73del, XM_011528886.2:c.73del, XM_011528886.1:c.73del, XM_017027932.2:c.73del, XM_017027932.1:c.73del, NM_001010974.2:c.73del, NM_001010974.1:c.73del, XM_047440278.1:c.73del, NP_060313.3:p.Asp25fs, XP_011527189.1:p.Asp25fs, XP_011527188.1:p.Asp25fs, XP_016883421.1:p.Asp25fs, NP_001010974.1:p.Asp25fs, XP_047296234.1:p.Asp25fs

Select item 142589189619.

rs1425891896 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:50795003 (GRCh38)
20:49411540 (GRCh37)
Canonical SPDI:: NC_000020.11:50795002:A:G
Gene:: BCAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.50795003A>G, NC_000020.10:g.49411540A>G, NM_017843.4:c.10A>G, NM_017843.3:c.10A>G, XM_011528887.3:c.10A>G, XM_011528887.2:c.10A>G, XM_011528887.1:c.10A>G, XM_011528886.3:c.10A>G, XM_011528886.2:c.10A>G, XM_011528886.1:c.10A>G, NM_198799.3:c.10A>G, XM_017027932.2:c.10A>G, XM_017027932.1:c.10A>G, NM_198799.2:c.10A>G, NM_001010974.2:c.10A>G, NM_001010974.1:c.10A>G, XM_047440278.1:c.10A>G, NP_060313.3:p.Thr4Ala, XP_011527189.1:p.Thr4Ala, XP_011527188.1:p.Thr4Ala, XP_016883421.1:p.Thr4Ala, NP_001010974.1:p.Thr4Ala, XP_047296234.1:p.Thr4Ala

Select item 142011908620.

rs1420119086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:50795012 (GRCh38)
20:49411549 (GRCh37)
Canonical SPDI:: NC_000020.11:50795011:G:A
Gene:: BCAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50795012G>A, NC_000020.10:g.49411549G>A, NM_017843.4:c.19G>A, NM_017843.3:c.19G>A, XM_011528887.3:c.19G>A, XM_011528887.2:c.19G>A, XM_011528887.1:c.19G>A, XM_011528886.3:c.19G>A, XM_011528886.2:c.19G>A, XM_011528886.1:c.19G>A, NM_198799.3:c.19G>A, XM_017027932.2:c.19G>A, XM_017027932.1:c.19G>A, NM_198799.2:c.19G>A, NM_001010974.2:c.19G>A, NM_001010974.1:c.19G>A, XM_047440278.1:c.19G>A, NP_060313.3:p.Gly7Arg, XP_011527189.1:p.Gly7Arg, XP_011527188.1:p.Gly7Arg, XP_016883421.1:p.Gly7Arg, NP_001010974.1:p.Gly7Arg, XP_047296234.1:p.Gly7Arg

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