HGVS | Genome Assembly |
---|---|
NC_000016.10:g.177002A>C , CM000678.2:g.177002A>C | GRCh38 |
NC_000016.9:g.227001A>C , CM000678.1:g.227001A>C | GRCh37 |
NC_000016.8:g.167001A>C | NCBI36 |
NG_000006.1:g.37865A>C | |
NG_059186.1:g.5352A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320868.9:c.169A>C MANE Select | ENSP00000322421.5:p.Lys57Gln | |
ENST00000397797.1:c.73A>C | ENSP00000380899.1:p.Lys25Gln | |
ENST00000472694.1:n.305A>C | ||
ENST00000487791.1:n.138A>C | ||
NM_000558.4:c.169A>C | NP_000549.1:p.Lys57Gln | |
NM_000558.5:c.169A>C MANE Select | NP_000549.1:p.Lys57Gln |