HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15930528A>C , CM000663.2:g.15930528A>C | GRCh38 |
NC_000001.10:g.16257023A>C , CM000663.1:g.16257023A>C | GRCh37 |
NC_000001.9:g.16129610A>C | NCBI36 |
NG_050663.1:g.87665A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000438066.2:c.*5139A>C | ENSP00000388021.2:n.*5139A>C | |
ENST00000375759.8:c.4288A>C MANE Select | ENSP00000364912.3:p.Lys1430Gln | |
ENST00000375759.7:c.4288A>C | ENSP00000364912.3:p.Lys1430Gln | |
NM_015001.2:c.4288A>C | NP_055816.2:p.Lys1430Gln | |
NM_015001.3:c.4288A>C MANE Select | NP_055816.2:p.Lys1430Gln |