HGVS | Genome Assembly |
---|---|
NC_000001.11:g.247457750G>T , CM000663.2:g.247457750G>T | GRCh38 |
NC_000001.10:g.247621052G>T , CM000663.1:g.247621052G>T | GRCh37 |
NC_000001.9:g.245687675G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000641149.2:c.-3194C>A MANE Select | ENSP00000492892.1:n.-3194C>A | |
ENST00000641149.1:c.-3194C>A | ENSP00000492892.1:n.-3194C>A | |
ENST00000641527.1:c.-1325C>A | ENSP00000493421.1:n.-1325C>A | |
ENST00000641613.1:n.259C>A | ||
NM_001004492.2:c.-3194C>A MANE Select | NP_001004492.1:n.-3194C>A | |
NR_169840.1:n.259C>A |