HGVS | Genome Assembly |
---|---|
NC_000001.11:g.159886560T>G , CM000663.2:g.159886560T>G | GRCh38 |
NC_000001.10:g.159856350T>G , CM000663.1:g.159856350T>G | GRCh37 |
NC_000001.9:g.158122974T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368099.9:c.718A>C MANE Select | ENSP00000357079.4:p.Ile240Leu | |
ENST00000368099.8:c.718A>C | ENSP00000357079.4:p.Ile240Leu | |
ENST00000426543.6:c.463A>C | ENSP00000403044.2:p.Ile155Leu | |
ENST00000476696.5:c.718A>C | ENSP00000483972.1:p.Ile240Leu | |
NM_012337.2:c.718A>C | NP_036469.2:p.Ile240Leu | |
NM_012337.3:c.718A>C MANE Select | NP_036469.2:p.Ile240Leu |