HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80280205G>T , CM000672.2:g.80280205G>T | GRCh38 |
NC_000010.10:g.82039961G>T , CM000672.1:g.82039961G>T | GRCh37 |
NC_000010.9:g.82029941G>T | NCBI36 |
NG_008083.1:g.14474C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372213.8:c.517C>A MANE Select | ENSP00000361287.3:p.Leu173Ile | |
ENST00000372213.7:c.517C>A | ENSP00000361287.3:p.Leu173Ile | |
ENST00000455001.1:c.328C>A | ENSP00000414961.1:p.Leu110Ile | |
NM_000429.2:c.517C>A | NP_000420.1:p.Leu173Ile | |
XM_005269842.3:c.517C>A | XP_005269899.1:p.Leu173Ile | |
XM_005269843.3:c.394C>A | XP_005269900.1:p.Leu132Ile | |
NM_000429.3:c.517C>A MANE Select | NP_000420.1:p.Leu173Ile |