HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80273845G>T , CM000672.2:g.80273845G>T | GRCh38 |
NC_000010.10:g.82033601G>T , CM000672.1:g.82033601G>T | GRCh37 |
NC_000010.9:g.82023581G>T | NCBI36 |
NG_008083.1:g.20834C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372213.8:c.1124C>A MANE Select | ENSP00000361287.3:p.Ala375Glu | |
ENST00000372213.7:c.1124C>A | ENSP00000361287.3:p.Ala375Glu | |
ENST00000480845.1:n.356C>A | ||
ENST00000485270.5:n.636C>A | ||
NM_000429.2:c.1124C>A | NP_000420.1:p.Ala375Glu | |
XM_005269842.3:c.1124C>A | XP_005269899.1:p.Ala375Glu | |
XM_005269843.3:c.1001C>A | XP_005269900.1:p.Ala334Glu | |
NM_000429.3:c.1124C>A MANE Select | NP_000420.1:p.Ala375Glu |