HGVS | Genome Assembly |
---|---|
NC_000003.12:g.50345725A>G , CM000665.2:g.50345725A>G | GRCh38 |
NC_000003.11:g.50383156A>G , CM000665.1:g.50383156A>G | GRCh37 |
NC_000003.10:g.50358160A>G | NCBI36 |
NG_023270.1:g.212T>C | |
NG_042828.1:g.5022T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000231749.8:c.-146T>C MANE Select | ENSP00000231749.3:n.-146T>C | |
ENST00000231749.7:c.-146T>C | ENSP00000231749.3:n.-146T>C | |
ENST00000360165.7:c.-146T>C | ENSP00000353289.3:n.-146T>C | |
NM_001308379.1:c.-146T>C | NP_001295308.1:n.-146T>C | |
NM_015896.2:c.-146T>C | NP_056980.2:n.-146T>C | |
NM_015896.3:c.-146T>C | NP_056980.2:n.-146T>C | |
XM_005265216.2:c.-274T>C | XP_005265273.1:n.-274T>C | |
NM_015896.4:c.-146T>C MANE Select | NP_056980.2:n.-146T>C | |
NM_001308379.2:c.-146T>C | NP_001295308.1:n.-146T>C |