Linked Data
ClinVar Variation Id:
488657
ClinVar RCV Id:
RCV000578479
dbSNP Id:
rs1553313859
PubMed:
PMID:26691894
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19913645C>A , CM000664.2:g.19913645C>A | GRCh38 |
| NC_000002.11:g.20113406C>A , CM000664.1:g.20113406C>A | GRCh37 |
| NC_000002.10:g.19976887C>A | NCBI36 |
| NG_021212.1:g.81479G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.3426G>T MANE Select | ENSP00000281405.5:p.Trp1142Cys | |
| ENST00000345530.8:c.3459G>T MANE Plus Clinical | ENSP00000314444.5:p.Trp1153Cys | |
| ENST00000281405.8:c.3426G>T | ENSP00000281405.4:p.Trp1142Cys | |
| ENST00000345530.7:c.3459G>T | ENSP00000314444.5:p.Trp1153Cys | |
| ENST00000414212.5:c.*741G>T | ENSP00000390802.1:n.*741G>T | |
| ENST00000445063.5:c.2385G>T | ||
| NM_001006657.1:c.3459G>T | NP_001006658.1:p.Trp1153Cys | |
| NM_020779.3:c.3426G>T | NP_065830.2:p.Trp1142Cys | |
| XM_011533007.1:c.2154G>T | XP_011531309.1:p.Trp718Cys | |
| XM_011533007.2:c.2154G>T | XP_011531309.1:p.Trp718Cys | |
| XR_426989.3:n.3359G>T | ||
| NM_001006657.2:c.3459G>T MANE Plus Clinical | NP_001006658.1:p.Trp1153Cys | |
| NM_020779.4:c.3426G>T MANE Select | NP_065830.2:p.Trp1142Cys |