HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132476C>G , CM000669.2:g.147132476C>G | GRCh38 |
NC_000007.13:g.146829568C>G , CM000669.1:g.146829568C>G | GRCh37 |
NC_000007.12:g.146460501C>G | NCBI36 |
NG_007092.2:g.1021116C>G | |
NG_007092.3:g.1021476C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1315C>G MANE Select | ENSP00000354778.3:p.Gln439Glu | |
ENST00000636561.1:n.1218C>G | ||
ENST00000636870.1:n.1177C>G | ||
ENST00000637150.1:n.1244C>G | ||
ENST00000637694.1:n.1218C>G | ||
ENST00000637825.1:n.798C>G | ||
ENST00000638117.1:n.1218C>G | ||
ENST00000361727.7:c.1315C>G | ENSP00000354778.3:p.Gln439Glu | |
NM_014141.5:c.1315C>G | NP_054860.1:p.Gln439Glu | |
XM_017011950.2:c.1315C>G | XP_016867439.1:p.Gln439Glu | |
NM_014141.6:c.1315C>G MANE Select | NP_054860.1:p.Gln439Glu |