Linked Data
ClinVar Variation Id:
21621
ClinVar RCV Id:
RCV002287340
dbSNP Id:
rs199422185
ExAC:
1:197062286 G / A
gnomAD v2:
1-197062286-G-A
gnomAD v3:
1-197093156-G-A
gnomAD v4:
1-197093156-G-A
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197093156G>A , CM000663.2:g.197093156G>A | GRCh38 |
| NC_000001.10:g.197062286G>A , CM000663.1:g.197062286G>A | GRCh37 |
| NC_000001.9:g.195328909G>A | NCBI36 |
| NG_015867.1:g.58539C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2477C>T | ||
| ENST00000367409.9:c.9190C>T MANE Select | ENSP00000356379.4:p.Arg3064Ter | |
| ENST00000680265.1:c.9412C>T | ENSP00000505384.1:p.Arg3138Ter | |
| ENST00000680710.1:c.9190C>T | ENSP00000506676.1:p.Arg3064Ter | |
| ENST00000294732.11:c.4435C>T | ENSP00000294732.7:p.Arg1479Ter | |
| ENST00000367408.5:c.2185C>T | ENSP00000356378.1:p.Arg729Ter | |
| ENST00000367409.8:c.9190C>T | ENSP00000356379.4:p.Arg3064Ter | |
| ENST00000612785.1:c.3148C>T | ENSP00000479244.1:p.Arg1050Ter | |
| NM_001206846.1:c.4435C>T | NP_001193775.1:p.Arg1479Ter | |
| NM_018136.4:c.9190C>T | NP_060606.3:p.Arg3064Ter | |
| NM_018136.5:c.9190C>T MANE Select | NP_060606.3:p.Arg3064Ter | |
| NM_001206846.2:c.4435C>T | NP_001193775.1:p.Arg1479Ter |