HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135952964A>T , CM000667.2:g.135952964A>T | GRCh38 |
NC_000005.9:g.135288653A>T , CM000667.1:g.135288653A>T | GRCh37 |
NC_000005.8:g.135316552A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274507.6:c.50T>A MANE Select | ENSP00000274507.1:p.Leu17Gln | |
ENST00000274507.5:c.50T>A | ENSP00000274507.1:p.Leu17Gln | |
ENST00000471827.1:n.153T>A | ||
ENST00000512872.1:c.-167T>A | ENSP00000427012.1:n.-167T>A | |
ENST00000514447.2:c.50T>A | ENSP00000421123.2:p.Leu17Gln | |
ENST00000522943.5:c.50T>A | ENSP00000429618.1:p.Leu17Gln | |
NM_002302.2:c.50T>A | NP_002293.2:p.Leu17Gln | |
NM_002302.3:c.50T>A MANE Select | NP_002293.2:p.Leu17Gln |