HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4912070G>T , CM000674.2:g.4912070G>T | GRCh38 |
NC_000012.11:g.5021236G>T , CM000674.1:g.5021236G>T | GRCh37 |
NC_000012.10:g.4891497G>T | NCBI36 |
NG_011815.1:g.7164G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382545.5:c.692G>T MANE Select | ENSP00000371985.3:p.Trp231Leu | |
ENST00000543874.3:n.105+1598G>T | ||
ENST00000639306.1:c.530G>T | ENSP00000492506.1:p.Trp177Leu | |
ENST00000382545.3:c.692G>T | ENSP00000371985.3:p.Trp231Leu | |
ENST00000541095.1:n.105+1598G>T | ||
ENST00000543874.2:n.96+1598G>T | ||
NM_000217.2:c.692G>T | NP_000208.2:p.Trp231Leu | |
NM_000217.3:c.692G>T MANE Select | NP_000208.2:p.Trp231Leu |