HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218893254G>A , CM000664.2:g.218893254G>A | GRCh38 |
NC_000002.11:g.219757976G>A , CM000664.1:g.219757976G>A | GRCh37 |
NC_000002.10:g.219466220G>A | NCBI36 |
NG_012179.1:g.17722G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258411.8:c.1237G>A MANE Select | ENSP00000258411.3:p.Val413Ile | |
ENST00000258411.7:c.1237G>A | ENSP00000258411.3:p.Val413Ile | |
ENST00000489887.1:n.34G>A | ||
NM_025216.2:c.1237G>A | NP_079492.2:p.Val413Ile | |
XM_011511928.1:c.1186G>A | XP_011510230.1:p.Val396Ile | |
XM_011511929.1:c.1141G>A | XP_011510231.1:p.Val381Ile | |
XM_011511930.1:c.857G>A | XP_011510232.1:p.Gly286Asp | |
XM_011511929.2:c.1141G>A | XP_011510231.1:p.Val381Ile | |
NM_025216.3:c.1237G>A MANE Select | NP_079492.2:p.Val413Ile |