HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46010958G>C , CM000682.2:g.46010958G>C | GRCh38 |
NC_000020.10:g.44639597G>C , CM000682.1:g.44639597G>C | GRCh37 |
NC_000020.9:g.44073004G>C | NCBI36 |
NG_011468.1:g.7051G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372330.3:c.557G>C MANE Select | ENSP00000361405.3:p.Gly186Ala | |
NM_004994.2:c.557G>C | NP_004985.2:p.Gly186Ala | |
NM_004994.3:c.557G>C MANE Select | NP_004985.2:p.Gly186Ala |