HGVS | Genome Assembly |
---|---|
NC_000005.10:g.74718811A= , CM000667.2:g.74718811A= | GRCh38 |
NC_000005.9:g.74014636A= , CM000667.1:g.74014636A= | GRCh37 |
NC_000005.8:g.74050392A= | NCBI36 |
NG_009770.1:g.38668A= | |
NG_009770.2:g.83789A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261416.12:c.1257A= MANE Select | ENSP00000261416.7:p.Thr419= | |
ENST00000261416.11:c.1257A= | ENSP00000261416.7:p.Thr419= | |
ENST00000503312.5:c.133A= | ||
ENST00000504459.5:n.454A= | ||
ENST00000511181.5:c.582A= | ENSP00000426285.1:p.Thr194= | |
ENST00000513336.5:c.193A= | ||
ENST00000513539.1:n.74-98A= | ||
NM_000521.3:c.1257A= | NP_000512.1:p.Thr419= | |
NM_001292004.1:c.582A= | NP_001278933.1:p.Thr194= | |
NM_000521.4:c.1257A= MANE Select | NP_000512.2:p.Thr419= | |
NM_001292004.2:c.582A= | NP_001278933.1:p.Thr194= |