Linked Data
dbSNP Id:
rs374948045
ExAC:
22:19164398 G / A
gnomAD v2:
22-19164398-G-A
gnomAD v3:
22-19176885-G-A
gnomAD v4:
22-19176885-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176885G>A , CM000684.2:g.19176885G>A | GRCh38 |
| NC_000022.10:g.19164398G>A , CM000684.1:g.19164398G>A | GRCh37 |
| NC_000022.9:g.17544398G>A | NCBI36 |
| NG_033863.1:g.6979C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.592C>T MANE Select | ENSP00000215882.5:p.Arg198Cys | |
| ENST00000215882.9:c.592C>T | ENSP00000215882.5:p.Arg198Cys | |
| ENST00000451283.5:c.283C>T | ENSP00000401480.1:p.Arg95Cys | |
| ENST00000461267.1:n.738C>T | ||
| ENST00000470922.5:n.734C>T | ||
| NM_001256534.1:c.613C>T | NP_001243463.1:p.Arg205Cys | |
| NM_001287387.1:c.283C>T | NP_001274316.1:p.Arg95Cys | |
| NM_005984.4:c.592C>T | NP_005975.1:p.Arg198Cys | |
| NR_046298.2:n.643C>T | ||
| NM_005984.5:c.592C>T MANE Select | NP_005975.1:p.Arg198Cys | |
| NM_001256534.2:c.613C>T | NP_001243463.1:p.Arg205Cys | |
| NM_001287387.2:c.283C>T | NP_001274316.1:p.Arg95Cys | |
| NR_046298.3:n.516C>T |