HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58782224T>G , CM000663.2:g.58782224T>G | GRCh38 |
NC_000001.10:g.59247896T>G , CM000663.1:g.59247896T>G | GRCh37 |
NC_000001.9:g.59020484T>G | NCBI36 |
NG_047027.1:g.6890A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000710273.1:c.913A>C | ENSP00000518166.1:p.Lys305Gln | |
ENST00000371222.4:c.847A>C MANE Select | ENSP00000360266.2:p.Lys283Gln | |
ENST00000678696.1:c.847A>C | ENSP00000503132.1:p.Lys283Gln | |
ENST00000371222.3:c.847A>C | ENSP00000360266.2:p.Lys283Gln | |
NM_002228.3:c.847A>C | NP_002219.1:p.Lys283Gln | |
NM_002228.4:c.847A>C MANE Select | NP_002219.1:p.Lys283Gln |