Linked Data
ClinVar Variation Id:
419624
dbSNP Id:
rs1064793998
gnomAD v4:
7-44153325-C-T
PubMed:
PMID:16731834
PMID:16938872
PMID:17186219
PMID:17389332
PMID:18322640
PMID:18481947
PMID:19187021
PMID:19790256
PMID:21104275
PMID:21831042
PMID:27271189
ERepo:
CA16618472/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44153325C>T , CM000669.2:g.44153325C>T | GRCh38 |
| NC_000007.13:g.44192924C>T , CM000669.1:g.44192924C>T | GRCh37 |
| NC_000007.12:g.44159449C>T | NCBI36 |
| NG_008847.1:g.41099G>A | |
| NG_008847.2:g.49846G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*182G>A | ENSP00000379142.4:n.*182G>A | |
| ENST00000616242.5:c.184G>A | ENSP00000482149.2:p.Val62Met | |
| ENST00000682635.1:n.670G>A | ||
| ENST00000345378.7:c.187G>A | ENSP00000223366.2:p.Val63Met | |
| ENST00000403799.8:c.184G>A MANE Select | ENSP00000384247.3:p.Val62Met | |
| ENST00000671824.1:c.184G>A | ENSP00000500264.1:p.Val62Met | |
| ENST00000673284.1:c.184G>A | ENSP00000499852.1:p.Val62Met | |
| ENST00000345378.6:c.187G>A | ENSP00000223366.2:p.Val63Met | |
| ENST00000395796.7:c.181G>A | ENSP00000379142.3:p.Val61Met | |
| ENST00000403799.7:c.184G>A | ENSP00000384247.3:p.Val62Met | |
| ENST00000437084.1:c.184G>A | ENSP00000402840.1:p.Val62Met | |
| ENST00000616242.4:c.181G>A | ENSP00000482149.1:p.Val61Met | |
| NM_000162.3:c.184G>A | NP_000153.1:p.Val62Met | |
| NM_033507.1:c.187G>A | NP_277042.1:p.Val63Met | |
| NM_033508.1:c.181G>A | NP_277043.1:p.Val61Met | |
| NM_000162.4:c.184G>A | NP_000153.1:p.Val62Met | |
| NM_001354800.1:c.184G>A | NP_001341729.1:p.Val62Met | |
| NM_033507.2:c.187G>A | NP_277042.1:p.Val63Met | |
| NM_033508.2:c.181G>A | NP_277043.1:p.Val61Met | |
| NM_000162.5:c.184G>A MANE Select | NP_000153.1:p.Val62Met | |
| NM_033507.3:c.187G>A | NP_277042.1:p.Val63Met | |
| NM_033508.3:c.181G>A | NP_277043.1:p.Val61Met |