Linked Data
ClinVar Variation Id:
128332
dbSNP Id:
rs74203920
ExAC:
21:45714294 C / T
gnomAD v2:
21-45714294-C-T
gnomAD v3:
21-44294411-C-T
gnomAD v4:
21-44294411-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44294411C>T , CM000683.2:g.44294411C>T | GRCh38 |
| NC_000021.8:g.45714294C>T , CM000683.1:g.45714294C>T | GRCh37 |
| NC_000021.7:g.44538722C>T | NCBI36 |
| NG_009556.1:g.13532C>T , LRG_18:g.13532C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.1411C>T MANE Select | ENSP00000291582.5:p.Arg471Cys | |
| ENST00000291582.5:c.1411C>T | ENSP00000291582.5:p.Arg471Cys | |
| ENST00000337909.5:n.872C>T | ||
| ENST00000397994.8:n.790C>T | ||
| ENST00000527919.5:n.2170C>T | ||
| ENST00000530812.5:n.3158C>T | ||
| NM_000383.3:c.1411C>T | NP_000374.1:p.Arg471Cys | |
| XM_011529551.1:c.1408C>T | XP_011527853.1:p.Arg470Cys | |
| NM_000383.4:c.1411C>T MANE Select | NP_000374.1:p.Arg471Cys |