HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7527583T>G , CM000681.2:g.7527583T>G | GRCh38 |
NC_000019.9:g.7592469T>G , CM000681.1:g.7592469T>G | GRCh37 |
NC_000019.8:g.7498469T>G | NCBI36 |
NG_015806.1:g.9974T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.635T>G MANE Select | ENSP00000264079.5:p.Leu212Trp | |
ENST00000264079.10:c.635T>G | ENSP00000264079.5:p.Leu212Trp | |
ENST00000394321.9:n.715T>G | ||
ENST00000598406.1:n.456T>G | ||
ENST00000601003.1:c.572-281T>G | ENSP00000469074.1:n.572-281T>G | |
NM_020533.2:c.635T>G | NP_065394.1:p.Leu212Trp | |
NM_020533.3:c.635T>G MANE Select | NP_065394.1:p.Leu212Trp |