HGVS | Genome Assembly |
---|---|
NC_000004.12:g.177442331C>T , CM000666.2:g.177442331C>T | GRCh38 |
NC_000004.11:g.178363485C>T , CM000666.1:g.178363485C>T | GRCh37 |
NC_000004.10:g.178600479C>T | NCBI36 |
NG_011845.2:g.5173G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264595.7:c.45G>A MANE Select | ENSP00000264595.2:p.Leu15= | |
ENST00000264595.6:c.45G>A | ENSP00000264595.2:p.Leu15= | |
ENST00000506853.5:n.79G>A | ||
ENST00000510955.5:n.79G>A | ||
ENST00000511231.1:n.79G>A | ||
NM_000027.3:c.45G>A | NP_000018.2:p.Leu15= | |
NM_001171988.1:c.45G>A | NP_001165459.1:p.Leu15= | |
NR_033655.1:n.173G>A | ||
XM_006714123.2:c.45G>A | XP_006714186.1:p.Leu15= | |
XR_001741155.2:n.139G>A | ||
NM_000027.4:c.45G>A MANE Select | NP_000018.2:p.Leu15= | |
NM_001171988.2:c.45G>A | NP_001165459.1:p.Leu15= | |
NR_033655.2:n.107G>A |