Linked Data
ClinVar Variation Id:
409068
ClinVar RCV Id:
RCV000472536
dbSNP Id:
rs371742334
ExAC:
9:139391716 G / A
gnomAD v2:
9-139391716-G-A
gnomAD v3:
9-136497264-G-A
gnomAD v4:
9-136497264-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497264G>A , CM000671.2:g.136497264G>A | GRCh38 |
| NC_000009.11:g.139391716G>A , CM000671.1:g.139391716G>A | GRCh37 |
| NC_000009.10:g.138511537G>A | NCBI36 |
| NG_007458.1:g.53523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6475C>T MANE Select | ENSP00000498587.1:p.Arg2159Cys | |
| ENST00000679595.1:c.*1515C>T | ENSP00000506241.1:n.*1515C>T | |
| ENST00000679969.1:n.3071C>T | ||
| ENST00000680003.1:n.2807C>T | ||
| ENST00000680133.1:c.6361C>T | ENSP00000505319.1:p.Arg2121Cys | |
| ENST00000680218.1:c.6355C>T | ENSP00000505339.1:p.Arg2119Cys | |
| ENST00000680668.1:c.6361C>T | ENSP00000506336.1:p.Arg2121Cys | |
| ENST00000680778.1:c.4072C>T | ENSP00000506033.1:p.Arg1358Cys | |
| ENST00000680924.1:c.*3875C>T | ENSP00000506031.1:n.*3875C>T | |
| ENST00000681135.1:c.*4084C>T | ENSP00000506636.1:n.*4084C>T | |
| ENST00000681298.1:n.4580C>T | ||
| ENST00000681454.1:c.*5711C>T | ENSP00000505763.1:n.*5711C>T | |
| ENST00000277541.6:c.6475C>T | ENSP00000277541.6:p.Arg2159Cys | |
| NM_017617.3:c.6475C>T | NP_060087.3:p.Arg2159Cys | |
| XM_011518717.1:c.5776C>T | XP_011517019.1:p.Arg1926Cys | |
| NM_017617.5:c.6475C>T MANE Select | NP_060087.3:p.Arg2159Cys | |
| XM_011518717.2:c.5752C>T | XP_011517019.2:p.Arg1918Cys |