Linked Data
ClinVar Variation Id:
236125
dbSNP Id:
rs886044747
gnomAD v2:
1-94485145-C-T
gnomAD v4:
1-94019589-C-T
PubMed:
PMID:28118664
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94019589C>T , CM000663.2:g.94019589C>T | GRCh38 |
| NC_000001.10:g.94485145C>T , CM000663.1:g.94485145C>T | GRCh37 |
| NC_000001.9:g.94257733C>T | NCBI36 |
| NG_009073.1:g.106561G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5189G>A MANE Select | ENSP00000359245.3:p.Trp1730Ter | |
| ENST00000370225.3:c.5189G>A | ENSP00000359245.3:p.Trp1730Ter | |
| ENST00000460514.1:n.683G>A | ||
| ENST00000470771.1:n.299G>A | ||
| ENST00000536513.5:c.1565G>A | ENSP00000439707.2:p.Trp522Ter | |
| NM_000350.2:c.5189G>A | NP_000341.2:p.Trp1730Ter | |
| NM_000350.3:c.5189G>A MANE Select | NP_000341.2:p.Trp1730Ter |