HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21011365C>T , CM000664.2:g.21011365C>T | GRCh38 |
NC_000002.11:g.21234237C>T , CM000664.1:g.21234237C>T | GRCh37 |
NC_000002.10:g.21087742C>T | NCBI36 |
NG_011793.1:g.37709G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673739.2:c.*4809G>A | ENSP00000501110.2:n.*4809G>A | |
ENST00000673739.1:c.5217G>A | ENSP00000501110.1:n.5217G>A | |
ENST00000233242.5:c.5503G>A MANE Select | ENSP00000233242.1:p.Glu1835Lys | |
ENST00000616098.4:c.5503G>A | ENSP00000477990.1:p.Glu1835Lys | |
NM_000384.2:c.5503G>A | NP_000375.2:p.Glu1835Lys | |
XM_011532809.1:c.5503G>A | XP_011531111.1:p.Glu1835Lys | |
NM_000384.3:c.5503G>A MANE Select | NP_000375.3:p.Glu1835Lys |