Linked Data
ClinVar Variation Id:
2175473
ClinVar RCV Id:
RCV002579251
dbSNP Id:
rs571125128
ExAC:
1:186143659 T / C
gnomAD v2:
1-186143659-T-C
gnomAD v3:
1-186174527-T-C
gnomAD v4:
1-186174527-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186174527T>C , CM000663.2:g.186174527T>C | GRCh38 |
| NC_000001.10:g.186143659T>C , CM000663.1:g.186143659T>C | GRCh37 |
| NC_000001.9:g.184410282T>C | NCBI36 |
| NG_011841.1:g.444977T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15828T>C MANE Select | ENSP00000271588.4:p.Cys5276= | |
| ENST00000271588.8:c.15828T>C | ENSP00000271588.4:p.Cys5276= | |
| ENST00000414277.1:c.204T>C | ENSP00000406205.1:p.Cys68= | |
| NM_031935.2:c.15828T>C | NP_114141.2:p.Cys5276= | |
| XM_011510037.1:c.15543T>C | XP_011508339.1:p.Cys5181= | |
| XM_011510038.1:c.15828T>C | XP_011508340.1:p.Cys5276= | |
| XM_011510038.3:c.15828T>C | XP_011508340.1:p.Cys5276= | |
| XM_017002437.1:c.13851T>C | XP_016857926.1:p.Cys4617= | |
| NM_031935.3:c.15828T>C MANE Select | NP_114141.2:p.Cys5276= |