Linked Data
ClinVar Variation Id:
39771
ClinVar RCV Id:
RCV000032990
dbSNP Id:
rs398122912
ExAC:
1:64095210 G / C
gnomAD v2:
1-64095210-G-C
gnomAD v4:
1-63629539-G-C
PubMed:
PMID:22492991
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63629539G>C , CM000663.2:g.63629539G>C | GRCh38 |
| NC_000001.10:g.64095210G>C , CM000663.1:g.64095210G>C | GRCh37 |
| NC_000001.9:g.63867798G>C | NCBI36 |
| NG_016966.1:g.41264G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.361G>C MANE Select | ENSP00000360125.3:p.Gly121Arg | |
| ENST00000650546.1:c.361G>C | ENSP00000497812.1:p.Gly121Arg | |
| ENST00000371083.4:c.415G>C | ENSP00000360124.4:p.Gly139Arg | |
| ENST00000371084.7:c.361G>C | ENSP00000360125.3:p.Gly121Arg | |
| ENST00000540265.5:c.-231G>C | ENSP00000443449.1:n.-231G>C | |
| NM_001172818.1:c.415G>C | NP_001166289.1:p.Gly139Arg | |
| NM_001172819.1:c.-231G>C | NP_001166290.1:n.-231G>C | |
| NM_002633.2:c.361G>C | NP_002624.2:p.Gly121Arg | |
| NM_002633.3:c.361G>C MANE Select | NP_002624.2:p.Gly121Arg | |
| NM_001172819.2:c.-231G>C | NP_001166290.1:n.-231G>C |