Linked Data
ClinVar Variation Id:
344216
dbSNP Id:
rs508508
ExAC:
3:172766822 G / A
gnomAD v2:
3-172766822-G-A
gnomAD v3:
3-173049032-G-A
gnomAD v4:
3-173049032-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.173049032G>A , CM000665.2:g.173049032G>A | GRCh38 |
| NC_000003.11:g.172766822G>A , CM000665.1:g.172766822G>A | GRCh37 |
| NC_000003.10:g.174249516G>A | NCBI36 |
| NG_021422.1:g.97237C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351008.4:c.675C>T MANE Select | ENSP00000341765.3:p.Ser225= | |
| ENST00000351008.3:c.675C>T | ENSP00000341765.3:p.Ser225= | |
| NM_031955.5:c.675C>T | NP_114161.3:p.Ser225= | |
| XM_006713778.2:c.675C>T | XP_006713841.1:p.Ser225= | |
| XM_011513222.1:c.675C>T | XP_011511524.1:p.Ser225= | |
| XM_006713778.3:c.675C>T | XP_006713841.1:p.Ser225= | |
| XM_017007308.2:c.675C>T | XP_016862797.1:p.Ser225= | |
| NM_031955.6:c.675C>T MANE Select | NP_114161.3:p.Ser225= |