HGVS | Genome Assembly |
---|---|
NC_000009.12:g.69013644T>C , CM000671.2:g.69013644T>C | GRCh38 |
NC_000009.11:g.71628560T>C , CM000671.1:g.71628560T>C | GRCh37 |
NC_000009.10:g.70818380T>C | NCBI36 |
NG_042177.1:g.5480A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377276.5:c.449A>G MANE Select | ENSP00000366488.2:p.Gln150Arg | |
ENST00000377276.3:c.449A>G | ENSP00000366488.2:p.Gln150Arg | |
NM_002732.3:c.449A>G | NP_002723.2:p.Gln150Arg | |
NM_002732.4:c.449A>G MANE Select | NP_002723.2:p.Gln150Arg |