Linked Data
ClinVar Variation Id:
8363
ClinVar RCV Id:
RCV003231094
dbSNP Id:
rs121434502
ExAC:
2:109368449 C / T
gnomAD v2:
2-109368449-C-T
gnomAD v3:
2-108751993-C-T
gnomAD v4:
2-108751993-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108751993C>T , CM000664.2:g.108751993C>T | GRCh38 |
| NC_000002.11:g.109368449C>T , CM000664.1:g.109368449C>T | GRCh37 |
| NC_000002.10:g.108734881C>T | NCBI36 |
| NG_012210.1:g.37513C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697737.1:c.1754C>T | ENSP00000513426.1:p.Thr585Met | |
| ENST00000697738.1:n.2112C>T | ||
| ENST00000697740.1:c.1676C>T | ENSP00000513427.1:p.Thr559Met | |
| ENST00000697742.1:n.3451C>T | ||
| ENST00000697743.1:n.1314C>T | ||
| ENST00000283195.11:c.1754C>T MANE Select | ENSP00000283195.6:p.Thr585Met | |
| ENST00000283195.10:c.1754C>T | ENSP00000283195.6:p.Thr585Met | |
| ENST00000495506.1:n.443C>T | ||
| NM_006267.4:c.1754C>T | NP_006258.3:p.Thr585Met | |
| XM_005264002.1:c.1754C>T | XP_005264059.1:p.Thr585Met | |
| XM_005264003.1:c.1754C>T | XP_005264060.1:p.Thr585Met | |
| XM_005264004.1:c.1754C>T | XP_005264061.1:p.Thr585Met | |
| XM_005264005.3:c.1676C>T | XP_005264062.1:p.Thr559Met | |
| XM_005264007.1:c.1754C>T | XP_005264064.1:p.Thr585Met | |
| XM_011511575.1:c.1751C>T | XP_011509877.1:p.Thr584Met | |
| XM_011511576.1:c.1754C>T | XP_011509878.1:p.Thr585Met | |
| XM_011511578.1:c.1751C>T | XP_011509880.1:p.Thr584Met | |
| XM_005264002.3:c.1754C>T | XP_005264059.1:p.Thr585Met | |
| XM_005264003.3:c.1754C>T | XP_005264060.1:p.Thr585Met | |
| XM_005264004.3:c.1754C>T | XP_005264061.1:p.Thr585Met | |
| XM_005264005.4:c.1676C>T | XP_005264062.1:p.Thr559Met | |
| XM_005264007.3:c.1754C>T | XP_005264064.1:p.Thr585Met | |
| XM_011511575.2:c.1751C>T | XP_011509877.1:p.Thr584Met | |
| XM_011511576.3:c.1754C>T | XP_011509878.1:p.Thr585Met | |
| XM_011511578.2:c.1751C>T | XP_011509880.1:p.Thr584Met | |
| XM_017004623.2:c.1754C>T | XP_016860112.1:p.Thr585Met | |
| XM_017004624.2:c.1754C>T | XP_016860113.1:p.Thr585Met | |
| XM_017004625.1:c.1754C>T | XP_016860114.1:p.Thr585Met | |
| NM_006267.5:c.1754C>T MANE Select | NP_006258.3:p.Thr585Met |