HGVS | Genome Assembly |
---|---|
NC_000005.10:g.74689403G>A , CM000667.2:g.74689403G>A | GRCh38 |
NC_000005.9:g.73985228G>A , CM000667.1:g.73985228G>A | GRCh37 |
NC_000005.8:g.74020984G>A | NCBI36 |
NG_009770.1:g.9260G>A | |
NG_009770.2:g.54381G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261416.12:c.375G>A MANE Select | ENSP00000261416.7:p.Gln125= | |
ENST00000261416.11:c.375G>A | ENSP00000261416.7:p.Gln125= | |
ENST00000511181.5:c.-301G>A | ENSP00000426285.1:n.-301G>A | |
ENST00000513079.5:n.440G>A | ||
ENST00000515528.1:n.430G>A | ||
NM_000521.3:c.375G>A | NP_000512.1:p.Gln125= | |
NM_001292004.1:c.-301G>A | NP_001278933.1:n.-301G>A | |
NM_000521.4:c.375G>A MANE Select | NP_000512.2:p.Gln125= | |
NM_001292004.2:c.-301G>A | NP_001278933.1:n.-301G>A |