HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7527584G>A , CM000681.2:g.7527584G>A | GRCh38 |
NC_000019.9:g.7592470G>A , CM000681.1:g.7592470G>A | GRCh37 |
NC_000019.8:g.7498470G>A | NCBI36 |
NG_015806.1:g.9975G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.636G>A MANE Select | ENSP00000264079.5:p.Leu212= | |
ENST00000264079.10:c.636G>A | ENSP00000264079.5:p.Leu212= | |
ENST00000394321.9:n.716G>A | ||
ENST00000598406.1:n.457G>A | ||
ENST00000601003.1:c.572-280G>A | ENSP00000469074.1:n.572-280G>A | |
NM_020533.2:c.636G>A | NP_065394.1:p.Leu212= | |
NM_020533.3:c.636G>A MANE Select | NP_065394.1:p.Leu212= |