HGVS | Genome Assembly |
---|---|
NC_000005.10:g.175441537T>C , CM000667.2:g.175441537T>C | GRCh38 |
NC_000005.9:g.174868540T>C , CM000667.1:g.174868540T>C | GRCh37 |
NC_000005.8:g.174801146T>C | NCBI36 |
NG_011802.1:g.7624A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393752.3:c.*222A>G MANE Select | ENSP00000377353.1:n.*222A>G | |
ENST00000393752.2:c.*222A>G | ENSP00000377353.1:n.*222A>G | |
NM_000794.3:c.*222A>G | NP_000785.1:n.*222A>G | |
NM_000794.4:c.*222A>G | NP_000785.1:n.*222A>G | |
NM_000794.5:c.*222A>G MANE Select | NP_000785.1:n.*222A>G |