HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49123224C>G , CM000665.2:g.49123224C>G | GRCh38 |
NC_000003.11:g.49160657C>G , CM000665.1:g.49160657C>G | GRCh37 |
NC_000003.10:g.49135661C>G | NCBI36 |
NG_008094.1:g.14943G>C | |
NG_054716.1:g.2715G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305544.9:c.4132G>C MANE Select | ENSP00000307156.4:p.Asp1378His | |
ENST00000305544.8:c.4132G>C | ENSP00000307156.4:p.Asp1378His | |
ENST00000418109.5:c.4132G>C | ENSP00000388325.1:p.Asp1378His | |
ENST00000469665.1:n.362G>C | ||
NM_002292.3:c.4132G>C | NP_002283.3:p.Asp1378His | |
XM_005265127.3:c.4132G>C | XP_005265184.1:p.Asp1378His | |
XM_005265127.4:c.4132G>C | XP_005265184.1:p.Asp1378His | |
NM_002292.4:c.4132G>C MANE Select | NP_002283.3:p.Asp1378His |