HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58782222T>C , CM000663.2:g.58782222T>C | GRCh38 |
NC_000001.10:g.59247894T>C , CM000663.1:g.59247894T>C | GRCh37 |
NC_000001.9:g.59020482T>C | NCBI36 |
NG_047027.1:g.6892A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000710273.1:c.915A>G | ENSP00000518166.1:p.Lys305= | |
ENST00000371222.4:c.849A>G MANE Select | ENSP00000360266.2:p.Lys283= | |
ENST00000678696.1:c.849A>G | ENSP00000503132.1:p.Lys283= | |
ENST00000371222.3:c.849A>G | ENSP00000360266.2:p.Lys283= | |
NM_002228.3:c.849A>G | NP_002219.1:p.Lys283= | |
NM_002228.4:c.849A>G MANE Select | NP_002219.1:p.Lys283= |