Linked Data
ClinVar Variation Id:
1055173
ClinVar RCV Id:
RCV001363797
dbSNP Id:
rs1160159381
gnomAD v2:
1-201044632-A-G
gnomAD v4:
1-201075504-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201075504A>G , CM000663.2:g.201075504A>G | GRCh38 |
| NC_000001.10:g.201044632A>G , CM000663.1:g.201044632A>G | GRCh37 |
| NC_000001.9:g.199311255A>G | NCBI36 |
| NG_009816.1:g.42063T>C | |
| NG_009816.2:g.42063T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.1939T>C MANE Select | ENSP00000355192.3:p.Cys647Arg | |
| ENST00000679417.1:c.*1102T>C | ENSP00000506706.1:n.*1102T>C | |
| ENST00000680059.1:c.1939T>C | ENSP00000504944.1:p.Cys647Arg | |
| ENST00000681078.1:c.1939T>C | ENSP00000506645.1:p.Cys647Arg | |
| ENST00000681190.1:c.1939T>C | ENSP00000506428.1:p.Cys647Arg | |
| ENST00000681874.1:c.1939T>C | ENSP00000505162.1:p.Cys647Arg | |
| ENST00000362061.3:c.1939T>C | ENSP00000355192.3:p.Cys647Arg | |
| ENST00000367338.7:c.1939T>C | ENSP00000356307.3:p.Cys647Arg | |
| NM_000069.2:c.1939T>C | NP_000060.2:p.Cys647Arg | |
| XM_005245478.2:c.1939T>C | XP_005245535.1:p.Cys647Arg | |
| XM_005245478.3:c.1939T>C | XP_005245535.1:p.Cys647Arg | |
| NM_000069.3:c.1939T>C MANE Select | NP_000060.2:p.Cys647Arg |