HGVS | Genome Assembly |
---|---|
NC_000005.10:g.74718814A= , CM000667.2:g.74718814A= | GRCh38 |
NC_000005.9:g.74014639A= , CM000667.1:g.74014639A= | GRCh37 |
NC_000005.8:g.74050395A= | NCBI36 |
NG_009770.1:g.38671A= | |
NG_009770.2:g.83792A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261416.12:c.1260A= MANE Select | ENSP00000261416.7:p.Ile420= | |
ENST00000261416.11:c.1260A= | ENSP00000261416.7:p.Ile420= | |
ENST00000503312.5:c.136A= | ||
ENST00000504459.5:n.457A= | ||
ENST00000511181.5:c.585A= | ENSP00000426285.1:p.Ile195= | |
ENST00000513336.5:c.196A= | ||
ENST00000513539.1:n.74-95A= | ||
NM_000521.3:c.1260A= | NP_000512.1:p.Ile420= | |
NM_001292004.1:c.585A= | NP_001278933.1:p.Ile195= | |
NM_000521.4:c.1260A= MANE Select | NP_000512.2:p.Ile420= | |
NM_001292004.2:c.585A= | NP_001278933.1:p.Ile195= |