HGVS | Genome Assembly |
---|---|
NC_000011.10:g.44264931C>G , CM000673.2:g.44264931C>G | GRCh38 |
NC_000011.9:g.44286481C>G , CM000673.1:g.44286481C>G | GRCh37 |
NC_000011.8:g.44243057C>G | NCBI36 |
NG_015809.1:g.50236G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000652299.1:c.1159G>C MANE Select | ENSP00000498217.1:p.Asp387His | |
ENST00000329255.3:c.1159G>C | ENSP00000332744.3:p.Asp387His | |
NM_021926.3:c.1159G>C | NP_068745.2:p.Asp387His | |
XM_011520265.1:c.637G>C | XP_011518567.1:p.Asp213His | |
XM_011520266.1:c.637G>C | XP_011518568.1:p.Asp213His | |
NM_021926.4:c.1159G>C MANE Select | NP_068745.2:p.Asp387His |