SNP Links for Protein (Select 1034579803) - SNP

Select item 14869058061.

rs1486905806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:79690172 (GRCh38)
12:80083952 (GRCh37)
Canonical SPDI:: NC_000012.12:79690171:C:T
Gene:: PAWR (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.79690172C>T, NC_000012.11:g.80083952C>T, NM_002583.4:c.73G>A, NM_002583.3:c.73G>A, NM_002583.2:c.73G>A, XR_944560.3:n.313G>A, XR_944560.2:n.446G>A, XR_944560.1:n.382G>A, XR_944561.3:n.313G>A, XR_944561.2:n.446G>A, XR_944561.1:n.382G>A, NM_001354732.2:c.73G>A, NM_001354732.1:c.73G>A, XM_017019379.2:c.73G>A, XM_017019379.1:c.73G>A, NM_001354733.2:c.73G>A, NM_001354733.1:c.73G>A, XM_017019378.2:c.73G>A, XM_017019378.1:c.73G>A, XM_047428916.1:c.73G>A, XM_047428918.1:c.73G>A, XM_047428917.1:c.73G>A, XM_047428919.1:c.73G>A, NP_002574.2:p.Ala25Thr, NP_001341661.1:p.Ala25Thr, XP_016874868.1:p.Ala25Thr, NP_001341662.1:p.Ala25Thr, XP_016874867.1:p.Ala25Thr, XP_047284872.1:p.Ala25Thr, XP_047284874.1:p.Ala25Thr, XP_047284873.1:p.Ala25Thr, XP_047284875.1:p.Ala25Thr

Select item 14859238442.

rs1485923844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:79689816 (GRCh38)
12:80083596 (GRCh37)
Canonical SPDI:: NC_000012.12:79689815:A:C
Gene:: PAWR (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.79689816A>C, NC_000012.11:g.80083596A>C, NM_002583.4:c.429T>G, NM_002583.3:c.429T>G, NM_002583.2:c.429T>G, XR_944560.3:n.669T>G, XR_944560.2:n.802T>G, XR_944560.1:n.738T>G, XR_944561.3:n.669T>G, XR_944561.2:n.802T>G, XR_944561.1:n.738T>G, NM_001354732.2:c.429T>G, NM_001354732.1:c.429T>G, XM_017019379.2:c.429T>G, XM_017019379.1:c.429T>G, NM_001354733.2:c.429T>G, NM_001354733.1:c.429T>G, XM_017019378.2:c.429T>G, XM_017019378.1:c.429T>G, XM_047428916.1:c.429T>G, XM_047428918.1:c.429T>G, XM_047428917.1:c.429T>G, XM_047428919.1:c.429T>G, NP_002574.2:p.Ser143Arg, NP_001341661.1:p.Ser143Arg, XP_016874868.1:p.Ser143Arg, NP_001341662.1:p.Ser143Arg, XP_016874867.1:p.Ser143Arg, XP_047284872.1:p.Ser143Arg, XP_047284874.1:p.Ser143Arg, XP_047284873.1:p.Ser143Arg, XP_047284875.1:p.Ser143Arg

Select item 14755754173.

rs1475575417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:79689750 (GRCh38)
12:80083530 (GRCh37)
Canonical SPDI:: NC_000012.12:79689749:C:G
Gene:: PAWR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.79689750C>G, NC_000012.11:g.80083530C>G, NM_002583.4:c.495G>C, NM_002583.3:c.495G>C, NM_002583.2:c.495G>C, XR_944560.3:n.735G>C, XR_944560.2:n.868G>C, XR_944560.1:n.804G>C, XR_944561.3:n.735G>C, XR_944561.2:n.868G>C, XR_944561.1:n.804G>C, NM_001354732.2:c.495G>C, NM_001354732.1:c.495G>C, XM_017019379.2:c.495G>C, XM_017019379.1:c.495G>C, NM_001354733.2:c.495G>C, NM_001354733.1:c.495G>C, XM_017019378.2:c.495G>C, XM_017019378.1:c.495G>C, XM_047428916.1:c.495G>C, XM_047428918.1:c.495G>C, XM_047428917.1:c.495G>C, XM_047428919.1:c.495G>C

Select item 14700534494.

rs1470053449 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:79689761 (GRCh38)
12:80083541 (GRCh37)
Canonical SPDI:: NC_000012.12:79689760:A:C,NC_000012.12:79689760:A:G
Gene:: PAWR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.79689761A>C, NC_000012.12:g.79689761A>G, NC_000012.11:g.80083541A>C, NC_000012.11:g.80083541A>G, NM_002583.4:c.484T>G, NM_002583.4:c.484T>C, NM_002583.3:c.484T>G, NM_002583.3:c.484T>C, NM_002583.2:c.484T>G, NM_002583.2:c.484T>C, XR_944560.3:n.724T>G, XR_944560.3:n.724T>C, XR_944560.2:n.857T>G, XR_944560.2:n.857T>C, XR_944560.1:n.793T>G, XR_944560.1:n.793T>C, XR_944561.3:n.724T>G, XR_944561.3:n.724T>C, XR_944561.2:n.857T>G, XR_944561.2:n.857T>C, XR_944561.1:n.793T>G, XR_944561.1:n.793T>C, NM_001354732.2:c.484T>G, NM_001354732.2:c.484T>C, NM_001354732.1:c.484T>G, NM_001354732.1:c.484T>C, XM_017019379.2:c.484T>G, XM_017019379.2:c.484T>C, XM_017019379.1:c.484T>G, XM_017019379.1:c.484T>C, NM_001354733.2:c.484T>G, NM_001354733.2:c.484T>C, NM_001354733.1:c.484T>G, NM_001354733.1:c.484T>C, XM_017019378.2:c.484T>G, XM_017019378.2:c.484T>C, XM_017019378.1:c.484T>G, XM_017019378.1:c.484T>C, XM_047428916.1:c.484T>G, XM_047428916.1:c.484T>C, XM_047428918.1:c.484T>G, XM_047428918.1:c.484T>C, XM_047428917.1:c.484T>G, XM_047428917.1:c.484T>C, XM_047428919.1:c.484T>G, XM_047428919.1:c.484T>C, NP_002574.2:p.Ser162Ala, NP_002574.2:p.Ser162Pro, NP_001341661.1:p.Ser162Ala, NP_001341661.1:p.Ser162Pro, XP_016874868.1:p.Ser162Ala, XP_016874868.1:p.Ser162Pro, NP_001341662.1:p.Ser162Ala, NP_001341662.1:p.Ser162Pro, XP_016874867.1:p.Ser162Ala, XP_016874867.1:p.Ser162Pro, XP_047284872.1:p.Ser162Ala, XP_047284872.1:p.Ser162Pro, XP_047284874.1:p.Ser162Ala, XP_047284874.1:p.Ser162Pro, XP_047284873.1:p.Ser162Ala, XP_047284873.1:p.Ser162Pro, XP_047284875.1:p.Ser162Ala, XP_047284875.1:p.Ser162Pro

Select item 14691997955.

rs1469199795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:79689801 (GRCh38)
12:80083581 (GRCh37)
Canonical SPDI:: NC_000012.12:79689800:C:T
Gene:: PAWR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.79689801C>T, NC_000012.11:g.80083581C>T, NM_002583.4:c.444G>A, NM_002583.3:c.444G>A, NM_002583.2:c.444G>A, XR_944560.3:n.684G>A, XR_944560.2:n.817G>A, XR_944560.1:n.753G>A, XR_944561.3:n.684G>A, XR_944561.2:n.817G>A, XR_944561.1:n.753G>A, NM_001354732.2:c.444G>A, NM_001354732.1:c.444G>A, XM_017019379.2:c.444G>A, XM_017019379.1:c.444G>A, NM_001354733.2:c.444G>A, NM_001354733.1:c.444G>A, XM_017019378.2:c.444G>A, XM_017019378.1:c.444G>A, XM_047428916.1:c.444G>A, XM_047428918.1:c.444G>A, XM_047428917.1:c.444G>A, XM_047428919.1:c.444G>A

Select item 14672354036.

rs1467235403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:79689922 (GRCh38)
12:80083702 (GRCh37)
Canonical SPDI:: NC_000012.12:79689921:G:A
Gene:: PAWR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.79689922G>A, NC_000012.11:g.80083702G>A, NM_002583.4:c.323C>T, NM_002583.3:c.323C>T, NM_002583.2:c.323C>T, XR_944560.3:n.563C>T, XR_944560.2:n.696C>T, XR_944560.1:n.632C>T, XR_944561.3:n.563C>T, XR_944561.2:n.696C>T, XR_944561.1:n.632C>T, NM_001354732.2:c.323C>T, NM_001354732.1:c.323C>T, XM_017019379.2:c.323C>T, XM_017019379.1:c.323C>T, NM_001354733.2:c.323C>T, NM_001354733.1:c.323C>T, XM_017019378.2:c.323C>T, XM_017019378.1:c.323C>T, XM_047428916.1:c.323C>T, XM_047428918.1:c.323C>T, XM_047428917.1:c.323C>T, XM_047428919.1:c.323C>T, NP_002574.2:p.Ser108Leu, NP_001341661.1:p.Ser108Leu, XP_016874868.1:p.Ser108Leu, NP_001341662.1:p.Ser108Leu, XP_016874867.1:p.Ser108Leu, XP_047284872.1:p.Ser108Leu, XP_047284874.1:p.Ser108Leu, XP_047284873.1:p.Ser108Leu, XP_047284875.1:p.Ser108Leu

Select item 14563153037.

rs1456315303 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTG>- [Show Flanks]
Chromosome:: 12:79690036 (GRCh38)
12:80083816 (GRCh37)
Canonical SPDI:: NC_000012.12:79690028:GTTGTTGTTG:GTTGTTG
Gene:: PAWR (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTGTTG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.79690030TTG[2], NC_000012.11:g.80083810TTG[2], NM_002583.4:c.208AAC[2], NM_002583.3:c.208AAC[2], NM_002583.2:c.208AAC[2], XR_944560.3:n.448AAC[2], XR_944560.2:n.581AAC[2], XR_944560.1:n.517AAC[2], XR_944561.3:n.448AAC[2], XR_944561.2:n.581AAC[2], XR_944561.1:n.517AAC[2], NM_001354732.2:c.208AAC[2], NM_001354732.1:c.208AAC[2], XM_017019379.2:c.208AAC[2], XM_017019379.1:c.208AAC[2], NM_001354733.2:c.208AAC[2], NM_001354733.1:c.208AAC[2], XM_017019378.2:c.208AAC[2], XM_017019378.1:c.208AAC[2], XM_047428916.1:c.208AAC[2], XM_047428918.1:c.208AAC[2], XM_047428917.1:c.208AAC[2], XM_047428919.1:c.208AAC[2], NP_002574.2:p.Asn72del, NP_001341661.1:p.Asn72del, XP_016874868.1:p.Asn72del, NP_001341662.1:p.Asn72del, XP_016874867.1:p.Asn72del, XP_047284872.1:p.Asn72del, XP_047284874.1:p.Asn72del, XP_047284873.1:p.Asn72del, XP_047284875.1:p.Asn72del

Select item 14536327978.

rs1453632797 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:79690134 (GRCh38)
12:80083915 (GRCh37)
Canonical SPDI:: NC_000012.12:79690134:GGGGGG:GGGGGGG
Gene:: PAWR (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.79690140dup, NC_000012.11:g.80083920dup, NM_002583.4:c.110dup, NM_002583.3:c.110dup, NM_002583.2:c.110dup, XR_944560.3:n.350dup, XR_944560.2:n.483dup, XR_944560.1:n.419dup, XR_944561.3:n.350dup, XR_944561.2:n.483dup, XR_944561.1:n.419dup, NM_001354732.2:c.110dup, NM_001354732.1:c.110dup, XM_017019379.2:c.110dup, XM_017019379.1:c.110dup, NM_001354733.2:c.110dup, NM_001354733.1:c.110dup, XM_017019378.2:c.110dup, XM_017019378.1:c.110dup, XM_047428916.1:c.110dup, XM_047428918.1:c.110dup, XM_047428917.1:c.110dup, XM_047428919.1:c.110dup, NP_002574.2:p.Ala40fs, NP_001341661.1:p.Ala40fs, XP_016874868.1:p.Ala40fs, NP_001341662.1:p.Ala40fs, XP_016874867.1:p.Ala40fs, XP_047284872.1:p.Ala40fs, XP_047284874.1:p.Ala40fs, XP_047284873.1:p.Ala40fs, XP_047284875.1:p.Ala40fs

Select item 14521411719.

rs1452141171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:79690136 (GRCh38)
12:80083916 (GRCh37)
Canonical SPDI:: NC_000012.12:79690135:G:A
Gene:: PAWR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.79690136G>A, NC_000012.11:g.80083916G>A, NM_002583.4:c.109C>T, NM_002583.3:c.109C>T, NM_002583.2:c.109C>T, XR_944560.3:n.349C>T, XR_944560.2:n.482C>T, XR_944560.1:n.418C>T, XR_944561.3:n.349C>T, XR_944561.2:n.482C>T, XR_944561.1:n.418C>T, NM_001354732.2:c.109C>T, NM_001354732.1:c.109C>T, XM_017019379.2:c.109C>T, XM_017019379.1:c.109C>T, NM_001354733.2:c.109C>T, NM_001354733.1:c.109C>T, XM_017019378.2:c.109C>T, XM_017019378.1:c.109C>T, XM_047428916.1:c.109C>T, XM_047428918.1:c.109C>T, XM_047428917.1:c.109C>T, XM_047428919.1:c.109C>T, NP_002574.2:p.Pro37Ser, NP_001341661.1:p.Pro37Ser, XP_016874868.1:p.Pro37Ser, NP_001341662.1:p.Pro37Ser, XP_016874867.1:p.Pro37Ser, XP_047284872.1:p.Pro37Ser, XP_047284874.1:p.Pro37Ser, XP_047284873.1:p.Pro37Ser, XP_047284875.1:p.Pro37Ser

Select item 145049312510.

rs1450493125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:79690115 (GRCh38)
12:80083895 (GRCh37)
Canonical SPDI:: NC_000012.12:79690114:C:T
Gene:: PAWR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.79690115C>T, NC_000012.11:g.80083895C>T, NM_002583.4:c.130G>A, NM_002583.3:c.130G>A, NM_002583.2:c.130G>A, XR_944560.3:n.370G>A, XR_944560.2:n.503G>A, XR_944560.1:n.439G>A, XR_944561.3:n.370G>A, XR_944561.2:n.503G>A, XR_944561.1:n.439G>A, NM_001354732.2:c.130G>A, NM_001354732.1:c.130G>A, XM_017019379.2:c.130G>A, XM_017019379.1:c.130G>A, NM_001354733.2:c.130G>A, NM_001354733.1:c.130G>A, XM_017019378.2:c.130G>A, XM_017019378.1:c.130G>A, XM_047428916.1:c.130G>A, XM_047428918.1:c.130G>A, XM_047428917.1:c.130G>A, XM_047428919.1:c.130G>A, NP_002574.2:p.Gly44Arg, NP_001341661.1:p.Gly44Arg, XP_016874868.1:p.Gly44Arg, NP_001341662.1:p.Gly44Arg, XP_016874867.1:p.Gly44Arg, XP_047284872.1:p.Gly44Arg, XP_047284874.1:p.Gly44Arg, XP_047284873.1:p.Gly44Arg, XP_047284875.1:p.Gly44Arg

Select item 144277608311.

rs1442776083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:79690073 (GRCh38)
12:80083853 (GRCh37)
Canonical SPDI:: NC_000012.12:79690072:G:A
Gene:: PAWR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.79690073G>A, NC_000012.11:g.80083853G>A, NM_002583.4:c.172C>T, NM_002583.3:c.172C>T, NM_002583.2:c.172C>T, XR_944560.3:n.412C>T, XR_944560.2:n.545C>T, XR_944560.1:n.481C>T, XR_944561.3:n.412C>T, XR_944561.2:n.545C>T, XR_944561.1:n.481C>T, NM_001354732.2:c.172C>T, NM_001354732.1:c.172C>T, XM_017019379.2:c.172C>T, XM_017019379.1:c.172C>T, NM_001354733.2:c.172C>T, NM_001354733.1:c.172C>T, XM_017019378.2:c.172C>T, XM_017019378.1:c.172C>T, XM_047428916.1:c.172C>T, XM_047428918.1:c.172C>T, XM_047428917.1:c.172C>T, XM_047428919.1:c.172C>T

Select item 144244585312.

rs1442445853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:79690029 (GRCh38)
12:80083809 (GRCh37)
Canonical SPDI:: NC_000012.12:79690028:G:A
Gene:: PAWR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.79690029G>A, NC_000012.11:g.80083809G>A, NM_002583.4:c.216C>T, NM_002583.3:c.216C>T, NM_002583.2:c.216C>T, XR_944560.3:n.456C>T, XR_944560.2:n.589C>T, XR_944560.1:n.525C>T, XR_944561.3:n.456C>T, XR_944561.2:n.589C>T, XR_944561.1:n.525C>T, NM_001354732.2:c.216C>T, NM_001354732.1:c.216C>T, XM_017019379.2:c.216C>T, XM_017019379.1:c.216C>T, NM_001354733.2:c.216C>T, NM_001354733.1:c.216C>T, XM_017019378.2:c.216C>T, XM_017019378.1:c.216C>T, XM_047428916.1:c.216C>T, XM_047428918.1:c.216C>T, XM_047428917.1:c.216C>T, XM_047428919.1:c.216C>T

Select item 144181412413.

rs1441814124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:79690074 (GRCh38)
12:80083854 (GRCh37)
Canonical SPDI:: NC_000012.12:79690073:A:G
Gene:: PAWR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.001133/32 (TOMMO)
HGVS:: NC_000012.12:g.79690074A>G, NC_000012.11:g.80083854A>G, NM_002583.4:c.171T>C, NM_002583.3:c.171T>C, NM_002583.2:c.171T>C, XR_944560.3:n.411T>C, XR_944560.2:n.544T>C, XR_944560.1:n.480T>C, XR_944561.3:n.411T>C, XR_944561.2:n.544T>C, XR_944561.1:n.480T>C, NM_001354732.2:c.171T>C, NM_001354732.1:c.171T>C, XM_017019379.2:c.171T>C, XM_017019379.1:c.171T>C, NM_001354733.2:c.171T>C, NM_001354733.1:c.171T>C, XM_017019378.2:c.171T>C, XM_017019378.1:c.171T>C, XM_047428916.1:c.171T>C, XM_047428918.1:c.171T>C, XM_047428917.1:c.171T>C, XM_047428919.1:c.171T>C

Select item 143952337514.

rs1439523375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:79689881 (GRCh38)
12:80083661 (GRCh37)
Canonical SPDI:: NC_000012.12:79689880:G:A
Gene:: PAWR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.79689881G>A, NC_000012.11:g.80083661G>A, NM_002583.4:c.364C>T, NM_002583.3:c.364C>T, NM_002583.2:c.364C>T, XR_944560.3:n.604C>T, XR_944560.2:n.737C>T, XR_944560.1:n.673C>T, XR_944561.3:n.604C>T, XR_944561.2:n.737C>T, XR_944561.1:n.673C>T, NM_001354732.2:c.364C>T, NM_001354732.1:c.364C>T, XM_017019379.2:c.364C>T, XM_017019379.1:c.364C>T, NM_001354733.2:c.364C>T, NM_001354733.1:c.364C>T, XM_017019378.2:c.364C>T, XM_017019378.1:c.364C>T, XM_047428916.1:c.364C>T, XM_047428918.1:c.364C>T, XM_047428917.1:c.364C>T, XM_047428919.1:c.364C>T, NP_002574.2:p.Pro122Ser, NP_001341661.1:p.Pro122Ser, XP_016874868.1:p.Pro122Ser, NP_001341662.1:p.Pro122Ser, XP_016874867.1:p.Pro122Ser, XP_047284872.1:p.Pro122Ser, XP_047284874.1:p.Pro122Ser, XP_047284873.1:p.Pro122Ser, XP_047284875.1:p.Pro122Ser

Select item 143877284515.

rs1438772845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:79690100 (GRCh38)
12:80083880 (GRCh37)
Canonical SPDI:: NC_000012.12:79690099:C:T
Gene:: PAWR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.79690100C>T, NC_000012.11:g.80083880C>T, NM_002583.4:c.145G>A, NM_002583.3:c.145G>A, NM_002583.2:c.145G>A, XR_944560.3:n.385G>A, XR_944560.2:n.518G>A, XR_944560.1:n.454G>A, XR_944561.3:n.385G>A, XR_944561.2:n.518G>A, XR_944561.1:n.454G>A, NM_001354732.2:c.145G>A, NM_001354732.1:c.145G>A, XM_017019379.2:c.145G>A, XM_017019379.1:c.145G>A, NM_001354733.2:c.145G>A, NM_001354733.1:c.145G>A, XM_017019378.2:c.145G>A, XM_017019378.1:c.145G>A, XM_047428916.1:c.145G>A, XM_047428918.1:c.145G>A, XM_047428917.1:c.145G>A, XM_047428919.1:c.145G>A, NP_002574.2:p.Ala49Thr, NP_001341661.1:p.Ala49Thr, XP_016874868.1:p.Ala49Thr, NP_001341662.1:p.Ala49Thr, XP_016874867.1:p.Ala49Thr, XP_047284872.1:p.Ala49Thr, XP_047284874.1:p.Ala49Thr, XP_047284873.1:p.Ala49Thr, XP_047284875.1:p.Ala49Thr

Select item 143844664116.

rs1438446641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:79689834 (GRCh38)
12:80083614 (GRCh37)
Canonical SPDI:: NC_000012.12:79689833:G:A
Gene:: PAWR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.79689834G>A, NC_000012.11:g.80083614G>A, NM_002583.4:c.411C>T, NM_002583.3:c.411C>T, NM_002583.2:c.411C>T, XR_944560.3:n.651C>T, XR_944560.2:n.784C>T, XR_944560.1:n.720C>T, XR_944561.3:n.651C>T, XR_944561.2:n.784C>T, XR_944561.1:n.720C>T, NM_001354732.2:c.411C>T, NM_001354732.1:c.411C>T, XM_017019379.2:c.411C>T, XM_017019379.1:c.411C>T, NM_001354733.2:c.411C>T, NM_001354733.1:c.411C>T, XM_017019378.2:c.411C>T, XM_017019378.1:c.411C>T, XM_047428916.1:c.411C>T, XM_047428918.1:c.411C>T, XM_047428917.1:c.411C>T, XM_047428919.1:c.411C>T

Select item 143820635417.

rs1438206354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:79689901 (GRCh38)
12:80083681 (GRCh37)
Canonical SPDI:: NC_000012.12:79689900:G:A
Gene:: PAWR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.79689901G>A, NC_000012.11:g.80083681G>A, NM_002583.4:c.344C>T, NM_002583.3:c.344C>T, NM_002583.2:c.344C>T, XR_944560.3:n.584C>T, XR_944560.2:n.717C>T, XR_944560.1:n.653C>T, XR_944561.3:n.584C>T, XR_944561.2:n.717C>T, XR_944561.1:n.653C>T, NM_001354732.2:c.344C>T, NM_001354732.1:c.344C>T, XM_017019379.2:c.344C>T, XM_017019379.1:c.344C>T, NM_001354733.2:c.344C>T, NM_001354733.1:c.344C>T, XM_017019378.2:c.344C>T, XM_017019378.1:c.344C>T, XM_047428916.1:c.344C>T, XM_047428918.1:c.344C>T, XM_047428917.1:c.344C>T, XM_047428919.1:c.344C>T, NP_002574.2:p.Ala115Val, NP_001341661.1:p.Ala115Val, XP_016874868.1:p.Ala115Val, NP_001341662.1:p.Ala115Val, XP_016874867.1:p.Ala115Val, XP_047284872.1:p.Ala115Val, XP_047284874.1:p.Ala115Val, XP_047284873.1:p.Ala115Val, XP_047284875.1:p.Ala115Val

Select item 143769116918.

rs1437691169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:79690015 (GRCh38)
12:80083795 (GRCh37)
Canonical SPDI:: NC_000012.12:79690014:G:A
Gene:: PAWR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.79690015G>A, NC_000012.11:g.80083795G>A, NM_002583.4:c.230C>T, NM_002583.3:c.230C>T, NM_002583.2:c.230C>T, XR_944560.3:n.470C>T, XR_944560.2:n.603C>T, XR_944560.1:n.539C>T, XR_944561.3:n.470C>T, XR_944561.2:n.603C>T, XR_944561.1:n.539C>T, NM_001354732.2:c.230C>T, NM_001354732.1:c.230C>T, XM_017019379.2:c.230C>T, XM_017019379.1:c.230C>T, NM_001354733.2:c.230C>T, NM_001354733.1:c.230C>T, XM_017019378.2:c.230C>T, XM_017019378.1:c.230C>T, XM_047428916.1:c.230C>T, XM_047428918.1:c.230C>T, XM_047428917.1:c.230C>T, XM_047428919.1:c.230C>T, NP_002574.2:p.Ala77Val, NP_001341661.1:p.Ala77Val, XP_016874868.1:p.Ala77Val, NP_001341662.1:p.Ala77Val, XP_016874867.1:p.Ala77Val, XP_047284872.1:p.Ala77Val, XP_047284874.1:p.Ala77Val, XP_047284873.1:p.Ala77Val, XP_047284875.1:p.Ala77Val

Select item 143646473819.

rs1436464738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:79690206 (GRCh38)
12:80083986 (GRCh37)
Canonical SPDI:: NC_000012.12:79690205:G:A
Gene:: PAWR (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.79690206G>A, NC_000012.11:g.80083986G>A, NM_002583.4:c.39C>T, NM_002583.3:c.39C>T, NM_002583.2:c.39C>T, XR_944560.3:n.279C>T, XR_944560.2:n.412C>T, XR_944560.1:n.348C>T, XR_944561.3:n.279C>T, XR_944561.2:n.412C>T, XR_944561.1:n.348C>T, NM_001354732.2:c.39C>T, NM_001354732.1:c.39C>T, XM_017019379.2:c.39C>T, XM_017019379.1:c.39C>T, NM_001354733.2:c.39C>T, NM_001354733.1:c.39C>T, XM_017019378.2:c.39C>T, XM_017019378.1:c.39C>T, XM_047428916.1:c.39C>T, XM_047428918.1:c.39C>T, XM_047428917.1:c.39C>T, XM_047428919.1:c.39C>T

Select item 143553482520.

rs1435534825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:79689960 (GRCh38)
12:80083740 (GRCh37)
Canonical SPDI:: NC_000012.12:79689959:G:T
Gene:: PAWR (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000012.12:g.79689960G>T, NC_000012.11:g.80083740G>T, NM_002583.4:c.285C>A, NM_002583.3:c.285C>A, NM_002583.2:c.285C>A, XR_944560.3:n.525C>A, XR_944560.2:n.658C>A, XR_944560.1:n.594C>A, XR_944561.3:n.525C>A, XR_944561.2:n.658C>A, XR_944561.1:n.594C>A, NM_001354732.2:c.285C>A, NM_001354732.1:c.285C>A, XM_017019379.2:c.285C>A, XM_017019379.1:c.285C>A, NM_001354733.2:c.285C>A, NM_001354733.1:c.285C>A, XM_017019378.2:c.285C>A, XM_017019378.1:c.285C>A, XM_047428916.1:c.285C>A, XM_047428918.1:c.285C>A, XM_047428917.1:c.285C>A, XM_047428919.1:c.285C>A

dbSNP

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dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 228

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