Linked Data
ClinVar Variation Id:
4006
dbSNP Id:
rs3970559
ExAC:
22:18905899 G / A
gnomAD v2:
22-18905899-G-A
gnomAD v3:
22-18918386-G-A
gnomAD v4:
22-18918386-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18918386G>A , CM000684.2:g.18918386G>A | GRCh38 |
| NC_000022.10:g.18905899G>A , CM000684.1:g.18905899G>A | GRCh37 |
| NC_000022.9:g.17285899G>A | NCBI36 |
| NG_008226.2:g.23168C>T | |
| NG_008226.3:g.23168C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357068.11:c.1357C>T MANE Select | ENSP00000349577.6:p.Arg453Cys | |
| ENST00000638240.1:c.513+7358G>A | ENSP00000492446.1:n.513+7358G>A | |
| ENST00000313755.9:n.2122C>T | ||
| ENST00000334029.6:c.1033C>T | ENSP00000334726.2:p.Arg345Cys | |
| ENST00000357068.10:c.1357C>T | ENSP00000349577.6:p.Arg453Cys | |
| ENST00000420436.5:c.1033C>T | ENSP00000410805.1:p.Arg345Cys | |
| ENST00000429300.5:n.1728C>T | ||
| ENST00000482858.5:n.3837C>T | ||
| ENST00000491604.5:n.2266C>T | ||
| ENST00000609229.1:n.2210C>T | ||
| ENST00000610940.4:c.1357C>T | ENSP00000480347.1:p.Arg453Cys | |
| NM_001195226.1:c.1033C>T | NP_001182155.1:p.Arg345Cys | |
| NM_016335.4:c.1357C>T | NP_057419.4:p.Arg453Cys | |
| XM_011530278.1:c.784C>T | XP_011528580.1:p.Arg262Cys | |
| XM_011530279.1:c.577C>T | XP_011528581.1:p.Arg193Cys | |
| XR_937876.1:n.1424C>T | ||
| NM_001195226.2:c.1033C>T | NP_001182155.2:p.Arg345Cys | |
| NM_016335.5:c.1357C>T | NP_057419.5:p.Arg453Cys | |
| NM_016335.6:c.1357C>T MANE Select | NP_057419.5:p.Arg453Cys |