HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58782705G>C , CM000663.2:g.58782705G>C | GRCh38 |
NC_000001.10:g.59248377G>C , CM000663.1:g.59248377G>C | GRCh37 |
NC_000001.9:g.59020965G>C | NCBI36 |
NG_047027.1:g.6409C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000710273.1:c.432C>G | ENSP00000518166.1:p.His144Gln | |
ENST00000371222.4:c.366C>G MANE Select | ENSP00000360266.2:p.His122Gln | |
ENST00000678696.1:c.366C>G | ENSP00000503132.1:p.His122Gln | |
ENST00000371222.3:c.366C>G | ENSP00000360266.2:p.His122Gln | |
NM_002228.3:c.366C>G | NP_002219.1:p.His122Gln | |
NM_002228.4:c.366C>G MANE Select | NP_002219.1:p.His122Gln |