Linked Data
ClinVar Variation Id:
449687
dbSNP Id:
rs761839638
ExAC:
14:20915434 G / A
gnomAD v2:
14-20915434-G-A
gnomAD v3:
14-20447275-G-A
gnomAD v4:
14-20447275-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20447275G>A , CM000676.2:g.20447275G>A | GRCh38 |
| NC_000014.8:g.20915434G>A , CM000676.1:g.20915434G>A | GRCh37 |
| NC_000014.7:g.19985274G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.9:c.973C>T MANE Select | ENSP00000206542.4:p.Arg325Trp | |
| ENST00000206542.8:c.973C>T | ENSP00000206542.4:p.Arg325Trp | |
| ENST00000553292.1:n.320C>T | ||
| ENST00000554249.5:n.851C>T | ||
| ENST00000555656.5:n.2394C>T | ||
| ENST00000556124.3:n.1334C>T | ||
| NM_017807.3:c.973C>T | NP_060277.1:p.Arg325Trp | |
| XM_011536930.1:c.916C>T | XP_011535232.1:p.Arg306Trp | |
| XM_011536931.1:c.730C>T | XP_011535233.1:p.Arg244Trp | |
| XM_011536932.1:c.730C>T | XP_011535234.1:p.Arg244Trp | |
| NM_017807.4:c.973C>T MANE Select | NP_060277.1:p.Arg325Trp |