Linked Data
ClinVar Variation Id:
500643
dbSNP Id:
rs187731832
ExAC:
1:120508104 C / T
gnomAD v2:
1-120508104-C-T
gnomAD v3:
1-119965481-C-T
gnomAD v4:
1-119965481-C-T
COSMIC:
COSM2180103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119965481C>T , CM000663.2:g.119965481C>T | GRCh38 |
| NC_000001.10:g.120508104C>T , CM000663.1:g.120508104C>T | GRCh37 |
| NC_000001.9:g.120309627C>T | NCBI36 |
| NG_008163.1:g.109173G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.1653G>A MANE Select | ENSP00000256646.2:p.Pro551= | |
| ENST00000640021.1:c.873G>A | ENSP00000492223.1:n.873G>A | |
| ENST00000256646.6:c.1653G>A | ENSP00000256646.2:p.Pro551= | |
| ENST00000479412.2:n.1791G>A | ||
| ENST00000579475.7:c.1536G>A | ENSP00000477065.2:p.Pro512= | |
| NM_001200001.1:c.1653G>A | NP_001186930.1:p.Pro551= | |
| NM_024408.3:c.1653G>A | NP_077719.2:p.Pro551= | |
| XM_005270901.2:c.1536G>A | XP_005270958.1:p.Pro512= | |
| XM_011541519.1:c.1641G>A | XP_011539821.1:p.Pro547= | |
| XM_011541520.1:c.1536G>A | XP_011539822.1:p.Pro512= | |
| NM_024408.4:c.1653G>A MANE Select | NP_077719.2:p.Pro551= | |
| NM_001200001.2:c.1653G>A | NP_001186930.1:p.Pro551= |