Linked Data
ClinVar Variation Id:
1917
ClinVar RCV Id:
RCV000001994
dbSNP Id:
rs56136737
ExAC:
1:43296531 C / G
gnomAD v2:
1-43296531-C-G
gnomAD v3:
1-42830860-C-G
gnomAD v4:
1-42830860-C-G
PubMed:
PMID:12393480
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42830860C>G , CM000663.2:g.42830860C>G | GRCh38 |
| NC_000001.10:g.43296531C>G , CM000663.1:g.43296531C>G | GRCh37 |
| NC_000001.9:g.43069118C>G | NCBI36 |
| NG_008749.1:g.18756C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372517.8:c.178C>G MANE Select | ENSP00000361595.2:p.Pro60Ala | |
| ENST00000487556.6:n.452-4178C>G | ||
| ENST00000642150.1:n.365C>G | ||
| ENST00000647120.1:n.248-4178C>G | ||
| ENST00000328249.3:c.-93C>G | ENSP00000332439.3:n.-93C>G | |
| ENST00000372514.7:c.178C>G | ENSP00000361592.3:p.Pro60Ala | |
| ENST00000372517.6:c.178C>G | ENSP00000361595.2:p.Pro60Ala | |
| ENST00000487556.5:n.247-4178C>G | ||
| NM_001017922.1:c.178C>G | NP_001017922.1:p.Pro60Ala | |
| NM_018538.3:c.178C>G | NP_061008.2:p.Pro60Ala | |
| XM_006710313.2:c.178C>G | XP_006710376.1:p.Pro60Ala | |
| XM_011540570.1:c.178C>G | XP_011538872.1:p.Pro60Ala | |
| XM_011540571.1:c.178C>G | XP_011538873.1:p.Pro60Ala | |
| XM_006710313.4:c.178C>G | XP_006710376.1:p.Pro60Ala | |
| XM_011540570.3:c.178C>G | XP_011538872.1:p.Pro60Ala | |
| XM_011540571.3:c.178C>G | XP_011538873.1:p.Pro60Ala | |
| NM_001017922.2:c.178C>G MANE Select | NP_001017922.1:p.Pro60Ala | |
| NM_018538.4:c.178C>G | NP_061008.2:p.Pro60Ala |