Identifiers and link-outs to other resources
ClinVar Variation Id:
370090
ClinVar RCV Id:
RCV000410887
dbSNP Id:
rs1057516225
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286679C>A , CM000683.2:g.44286679C>A | GRCh38 |
| NC_000021.8:g.45706562C>A , CM000683.1:g.45706562C>A | GRCh37 |
| NC_000021.7:g.44530990C>A | NCBI36 |
| NG_009556.1:g.5800C>A , LRG_18:g.5800C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_000383.3:c.255C>A VV | NP_000374.1:p.Tyr85Ter | |
| XM_011529551.1:c.255C>A | XP_011527853.1:p.Tyr85Ter | |
| ENST00000291582.5:c.255C>A | ENSP00000291582.5:p.Tyr85Ter | |
| ENST00000527919.5:n.416C>A | ||
| ENST00000530812.5:n.424C>A |