HGVS | Genome Assembly |
---|---|
NC_000005.10:g.74718817T>A , CM000667.2:g.74718817T>A | GRCh38 |
NC_000005.9:g.74014642T>A , CM000667.1:g.74014642T>A | GRCh37 |
NC_000005.8:g.74050398T>A | NCBI36 |
NG_009770.1:g.38674T>A | |
NG_009770.2:g.83795T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261416.12:c.1263T>A MANE Select | ENSP00000261416.7:p.Val421= | |
ENST00000261416.11:c.1263T>A | ENSP00000261416.7:p.Val421= | |
ENST00000503312.5:c.139T>A | ||
ENST00000504459.5:n.460T>A | ||
ENST00000511181.5:c.588T>A | ENSP00000426285.1:p.Val196= | |
ENST00000513336.5:c.199T>A | ||
ENST00000513539.1:n.74-92T>A | ||
NM_000521.3:c.1263T>A | NP_000512.1:p.Val421= | |
NM_001292004.1:c.588T>A | NP_001278933.1:p.Val196= | |
NM_000521.4:c.1263T>A MANE Select | NP_000512.2:p.Val421= | |
NM_001292004.2:c.588T>A | NP_001278933.1:p.Val196= |