HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7527585G>A , CM000681.2:g.7527585G>A | GRCh38 |
NC_000019.9:g.7592471G>A , CM000681.1:g.7592471G>A | GRCh37 |
NC_000019.8:g.7498471G>A | NCBI36 |
NG_015806.1:g.9976G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.637G>A MANE Select | ENSP00000264079.5:p.Glu213Lys | |
ENST00000264079.10:c.637G>A | ENSP00000264079.5:p.Glu213Lys | |
ENST00000394321.9:n.717G>A | ||
ENST00000598406.1:n.458G>A | ||
ENST00000601003.1:c.572-279G>A | ENSP00000469074.1:n.572-279G>A | |
NM_020533.2:c.637G>A | NP_065394.1:p.Glu213Lys | |
NM_020533.3:c.637G>A MANE Select | NP_065394.1:p.Glu213Lys |