HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94056770A>T , CM000663.2:g.94056770A>T | GRCh38 |
NC_000001.10:g.94522326A>T , CM000663.1:g.94522326A>T | GRCh37 |
NC_000001.9:g.94294914A>T | NCBI36 |
NG_009073.1:g.69380T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.2213T>A MANE Select | ENSP00000359245.3:p.Leu738Ter | |
ENST00000649773.1:c.2161-1455T>A | ENSP00000496882.1:n.2161-1455T>A | |
ENST00000370225.3:c.2213T>A | ENSP00000359245.3:p.Leu738Ter | |
ENST00000536513.5:c.-65+6404T>A | ENSP00000439707.2:n.-65+6404T>A | |
NM_000350.2:c.2213T>A | NP_000341.2:p.Leu738Ter | |
NM_000350.3:c.2213T>A MANE Select | NP_000341.2:p.Leu738Ter |