HGVS | Genome Assembly |
---|---|
NC_000005.10:g.74685559G>A , CM000667.2:g.74685559G>A | GRCh38 |
NC_000005.9:g.73981384G>A , CM000667.1:g.73981384G>A | GRCh37 |
NC_000005.8:g.74017140G>A | NCBI36 |
NG_009770.1:g.5416G>A | |
NG_009770.2:g.50537G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261416.12:c.299G>A MANE Select | ENSP00000261416.7:p.Arg100Gln | |
ENST00000261416.11:c.299G>A | ENSP00000261416.7:p.Arg100Gln | |
ENST00000511181.5:c.-376-3769G>A | ENSP00000426285.1:n.-376-3769G>A | |
ENST00000513079.5:n.364G>A | ||
ENST00000515528.1:n.354G>A | ||
NM_000521.3:c.299G>A | NP_000512.1:p.Arg100Gln | |
NM_001292004.1:c.-376-3769G>A | NP_001278933.1:n.-376-3769G>A | |
NM_000521.4:c.299G>A MANE Select | NP_000512.2:p.Arg100Gln | |
NM_001292004.2:c.-376-3769G>A | NP_001278933.1:n.-376-3769G>A |