Linked Data
ClinVar Variation Id:
1089555
ClinVar RCV Id:
RCV001408419
dbSNP Id:
rs2136470570
gnomAD v4:
12-13608816-A-T
MyVariant Identifiers:
chr12:g.13761750A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13608816A>T , CM000674.2:g.13608816A>T | GRCh38 |
| NC_000012.11:g.13761750A>T , CM000674.1:g.13761750A>T | GRCh37 |
| NC_000012.10:g.13653017A>T | NCBI36 |
| NG_031854.1:g.376273T>A | |
| NG_031854.2:g.378197T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.1797T>A MANE Select | ENSP00000477455.1:p.Ser599= | |
| ENST00000628166.2:n.57T>A | ||
| ENST00000609686.3:c.1797T>A | ENSP00000477455.1:p.Ser599= | |
| ENST00000628166.1:n.57T>A | ||
| NM_000834.3:c.1797T>A | NP_000825.2:p.Ser599= | |
| XM_011520628.1:c.1797T>A | XP_011518930.1:p.Ser599= | |
| XM_011520629.1:c.1797T>A | XP_011518931.1:p.Ser599= | |
| XM_011520630.1:c.1797T>A | XP_011518932.1:p.Ser599= | |
| XR_931372.1:n.179-6282A>T | ||
| XR_931373.1:n.318+59A>T | ||
| NM_000834.4:c.1797T>A | NP_000825.2:p.Ser599= | |
| XM_011520628.2:c.1797T>A | XP_011518930.1:p.Ser599= | |
| XM_011520629.2:c.1797T>A | XP_011518931.1:p.Ser599= | |
| XM_017019219.2:c.1797T>A | XP_016874708.1:p.Ser599= | |
| XR_001749013.1:n.457+59A>T | ||
| XR_931372.2:n.316-6282A>T | ||
| XR_931373.2:n.457+59A>T | ||
| NM_000834.5:c.1797T>A MANE Select | NP_000825.2:p.Ser599= |