Linked Data
ClinVar Variation Id:
21622
ClinVar RCV Id:
RCV000020812
dbSNP Id:
rs199422186
gnomAD v2:
1-197062238-T-A
gnomAD v3:
1-197093108-T-A
gnomAD v4:
1-197093108-T-A
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197093108T>A , CM000663.2:g.197093108T>A | GRCh38 |
| NC_000001.10:g.197062238T>A , CM000663.1:g.197062238T>A | GRCh37 |
| NC_000001.9:g.195328861T>A | NCBI36 |
| NG_015867.1:g.58587A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2525A>T | ||
| ENST00000367409.9:c.9238A>T MANE Select | ENSP00000356379.4:p.Lys3080Ter | |
| ENST00000680265.1:c.9460A>T | ENSP00000505384.1:p.Lys3154Ter | |
| ENST00000680710.1:c.9238A>T | ENSP00000506676.1:p.Lys3080Ter | |
| ENST00000294732.11:c.4483A>T | ENSP00000294732.7:p.Lys1495Ter | |
| ENST00000367408.5:c.2233A>T | ENSP00000356378.1:p.Lys745Ter | |
| ENST00000367409.8:c.9238A>T | ENSP00000356379.4:p.Lys3080Ter | |
| ENST00000612785.1:c.3196A>T | ENSP00000479244.1:p.Lys1066Ter | |
| NM_001206846.1:c.4483A>T | NP_001193775.1:p.Lys1495Ter | |
| NM_018136.4:c.9238A>T | NP_060606.3:p.Lys3080Ter | |
| NM_018136.5:c.9238A>T MANE Select | NP_060606.3:p.Lys3080Ter | |
| NM_001206846.2:c.4483A>T | NP_001193775.1:p.Lys1495Ter |