Linked Data
ClinVar Variation Id:
766764
ClinVar RCV Id:
RCV001438651
dbSNP Id:
rs1275673366
gnomAD v2:
12-13761609-G-A
gnomAD v3:
12-13608675-G-A
gnomAD v4:
12-13608675-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13608675G>A , CM000674.2:g.13608675G>A | GRCh38 |
| NC_000012.11:g.13761609G>A , CM000674.1:g.13761609G>A | GRCh37 |
| NC_000012.10:g.13652876G>A | NCBI36 |
| NG_031854.1:g.376414C>T | |
| NG_031854.2:g.378338C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.1938C>T MANE Select | ENSP00000477455.1:p.Tyr646= | |
| ENST00000628166.2:n.198C>T | ||
| ENST00000609686.3:c.1938C>T | ENSP00000477455.1:p.Tyr646= | |
| ENST00000628166.1:n.198C>T | ||
| NM_000834.3:c.1938C>T | NP_000825.2:p.Tyr646= | |
| XM_011520628.1:c.1938C>T | XP_011518930.1:p.Tyr646= | |
| XM_011520629.1:c.1938C>T | XP_011518931.1:p.Tyr646= | |
| XM_011520630.1:c.1938C>T | XP_011518932.1:p.Tyr646= | |
| XR_931372.1:n.179-6423G>A | ||
| XR_931373.1:n.236G>A | ||
| NM_000834.4:c.1938C>T | NP_000825.2:p.Tyr646= | |
| XM_005253351.3:c.-116C>T | XP_005253408.1:n.-116C>T | |
| XM_011520628.2:c.1938C>T | XP_011518930.1:p.Tyr646= | |
| XM_011520629.2:c.1938C>T | XP_011518931.1:p.Tyr646= | |
| XM_017019219.2:c.1938C>T | XP_016874708.1:p.Tyr646= | |
| XR_001749013.1:n.375G>A | ||
| XR_931372.2:n.316-6423G>A | ||
| XR_931373.2:n.375G>A | ||
| NM_000834.5:c.1938C>T MANE Select | NP_000825.2:p.Tyr646= |