Linked Data
ClinVar Variation Id:
309742
dbSNP Id:
rs200408293
ExAC:
12:53715187 G / C
gnomAD v2:
12-53715187-G-C
gnomAD v3:
12-53321403-G-C
gnomAD v4:
12-53321403-G-C
COSMIC:
COSM1932921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53321403G>C , CM000674.2:g.53321403G>C | GRCh38 |
| NC_000012.11:g.53715187G>C , CM000674.1:g.53715187G>C | GRCh37 |
| NC_000012.10:g.52001454G>C | NCBI36 |
| NG_016775.1:g.5226C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.63C>G MANE Select | ENSP00000209873.4:p.His21Gln | |
| ENST00000546393.7:n.161C>G | ||
| ENST00000546562.6:n.140+68C>G | ||
| ENST00000548880.2:n.213C>G | ||
| ENST00000209873.8:c.63C>G | ENSP00000209873.4:p.His21Gln | |
| ENST00000394384.7:c.63C>G | ENSP00000377908.3:p.His21Gln | |
| ENST00000546562.5:n.140+68C>G | ||
| ENST00000547757.1:c.63C>G | ENSP00000448020.1:p.His21Gln | |
| ENST00000547761.6:n.107+474C>G | ||
| ENST00000548258.5:n.152-711C>G | ||
| ENST00000548880.1:n.158C>G | ||
| ENST00000549821.5:n.121+474C>G | ||
| ENST00000549983.5:n.146+68C>G | ||
| ENST00000550286.5:c.-157-711C>G | ENSP00000446885.1:n.-157-711C>G | |
| ENST00000551724.5:n.174-711C>G | ||
| ENST00000552161.5:n.158C>G | ||
| NM_001173466.1:c.63C>G | NP_001166937.1:p.His21Gln | |
| NM_015665.5:c.63C>G | NP_056480.1:p.His21Gln | |
| XM_011538778.1:c.63C>G | XP_011537080.1:p.His21Gln | |
| XM_011538780.1:c.63C>G | XP_011537082.1:p.His21Gln | |
| XM_011538778.2:c.63C>G | XP_011537080.1:p.His21Gln | |
| XM_011538780.2:c.63C>G | XP_011537082.1:p.His21Gln | |
| XR_001748875.2:n.183C>G | ||
| NM_015665.6:c.63C>G MANE Select | NP_056480.1:p.His21Gln | |
| NM_001173466.2:c.63C>G | NP_001166937.1:p.His21Gln |