Linked Data
dbSNP Id:
rs780419689
ExAC:
12:13764729 T / A
gnomAD v2:
12-13764729-T-A
gnomAD v3:
12-13611795-T-A
gnomAD v4:
12-13611795-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13611795T>A , CM000674.2:g.13611795T>A | GRCh38 |
| NC_000012.11:g.13764729T>A , CM000674.1:g.13764729T>A | GRCh37 |
| NC_000012.10:g.13655996T>A | NCBI36 |
| NG_031854.1:g.373294A>T | |
| NG_031854.2:g.375218A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.1710A>T MANE Select | ENSP00000477455.1:p.Ser570= | |
| ENST00000609686.3:c.1710A>T | ENSP00000477455.1:p.Ser570= | |
| NM_000834.3:c.1710A>T | NP_000825.2:p.Ser570= | |
| XM_011520628.1:c.1710A>T | XP_011518930.1:p.Ser570= | |
| XM_011520629.1:c.1710A>T | XP_011518931.1:p.Ser570= | |
| XM_011520630.1:c.1710A>T | XP_011518932.1:p.Ser570= | |
| XR_931372.1:n.179-3303T>A | ||
| XR_931373.1:n.318+3038T>A | ||
| XR_931374.1:n.117+1195T>A | ||
| NM_000834.4:c.1710A>T | NP_000825.2:p.Ser570= | |
| XM_011520628.2:c.1710A>T | XP_011518930.1:p.Ser570= | |
| XM_011520629.2:c.1710A>T | XP_011518931.1:p.Ser570= | |
| XM_017019219.2:c.1710A>T | XP_016874708.1:p.Ser570= | |
| XR_001749013.1:n.599+1195T>A | ||
| XR_931372.2:n.316-3303T>A | ||
| XR_931373.2:n.457+3038T>A | ||
| NM_000834.5:c.1710A>T MANE Select | NP_000825.2:p.Ser570= |