Linked Data
ClinVar Variation Id:
450677
dbSNP Id:
rs376829041
ExAC:
9:35089414 G / A
gnomAD v2:
9-35089414-G-A
gnomAD v3:
9-35089417-G-A
gnomAD v4:
9-35089417-G-A
COSMIC:
COSM314147
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35089417G>A , CM000671.2:g.35089417G>A | GRCh38 |
| NC_000009.11:g.35089414G>A , CM000671.1:g.35089414G>A | GRCh37 |
| NC_000009.10:g.35079414G>A | NCBI36 |
| NG_031990.1:g.12185C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361778.7:c.1852C>T | ENSP00000354678.2:p.Arg618Cys | |
| ENST00000700254.1:c.1852C>T | ENSP00000514892.1:p.Arg618Cys | |
| ENST00000700255.1:c.*2283C>T | ENSP00000514893.1:n.*2283C>T | |
| ENST00000700256.1:n.3935C>T | ||
| ENST00000700257.1:c.3103C>T | ENSP00000514894.1:p.Arg1035Cys | |
| ENST00000700258.1:n.1094C>T | ||
| ENST00000700259.1:c.*666C>T | ENSP00000514895.1:n.*666C>T | |
| ENST00000700260.1:c.1672C>T | ENSP00000514896.1:p.Arg558Cys | |
| ENST00000700261.1:c.2110C>T | ENSP00000514897.1:p.Arg704Cys | |
| ENST00000700262.1:c.*34C>T | ENSP00000514898.1:n.*34C>T | |
| ENST00000700263.1:c.3057C>T | ENSP00000514899.1:n.3057C>T | |
| ENST00000700264.1:c.*34C>T | ENSP00000514900.1:n.*34C>T | |
| ENST00000378617.4:c.3103C>T MANE Select | ENSP00000367880.3:p.Arg1035Cys | |
| ENST00000298004.9:c.1852C>T | ENSP00000298004.5:p.Arg618Cys | |
| ENST00000361778.6:c.1852C>T | ENSP00000354678.2:p.Arg618Cys | |
| ENST00000378617.3:c.3103C>T | ENSP00000367880.3:p.Arg1035Cys | |
| ENST00000465745.6:n.4723C>T | ||
| ENST00000474436.1:n.5928C>T | ||
| ENST00000491687.1:n.238C>T | ||
| NM_001201484.1:c.1852C>T | NP_001188413.1:p.Arg618Cys | |
| NM_032634.3:c.3103C>T | NP_116023.2:p.Arg1035Cys | |
| NM_152850.3:c.1852C>T | NP_690577.2:p.Arg618Cys | |
| XM_005251619.2:c.3103C>T | XP_005251676.1:p.Arg1035Cys | |
| XM_011518056.1:c.3103C>T | XP_011516358.1:p.Arg1035Cys | |
| XR_242515.1:n.3128C>T | ||
| XM_005251619.3:c.3103C>T | XP_005251676.1:p.Arg1035Cys | |
| XM_017015222.2:c.3103C>T | XP_016870711.1:p.Arg1035Cys | |
| XM_017015223.1:c.1852C>T | XP_016870712.1:p.Arg618Cys | |
| XM_017015224.1:c.1852C>T | XP_016870713.1:p.Arg618Cys | |
| XR_001746390.1:n.3530C>T | ||
| XR_001746391.2:n.1877C>T | ||
| XR_242515.3:n.3128C>T | ||
| NM_032634.4:c.3103C>T MANE Select | NP_116023.2:p.Arg1035Cys | |
| NM_001201484.2:c.1852C>T | NP_001188413.1:p.Arg618Cys | |
| NM_152850.4:c.1852C>T | NP_690577.2:p.Arg618Cys |