HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73743328A>C , CM000666.2:g.73743328A>C | GRCh38 |
NC_000004.11:g.74609045A>C , CM000666.1:g.74609045A>C | GRCh37 |
NC_000004.10:g.74827909A>C | NCBI36 |
NG_029889.1:g.7823A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696131.1:c.*1368A>C | ENSP00000512424.1:n.*1368A>C | |
ENST00000696132.1:c.*1122A>C | ENSP00000512425.1:n.*1122A>C | |
ENST00000307407.8:c.*864A>C MANE Select | ENSP00000306512.3:n.*864A>C | |
ENST00000307407.7:c.*864A>C | ENSP00000306512.3:n.*864A>C | |
NM_000584.3:c.*864A>C | NP_000575.1:n.*864A>C | |
NM_000584.4:c.*864A>C MANE Select | NP_000575.1:n.*864A>C | |
NM_001354840.3:c.*1292A>C | NP_001341769.1:n.*1292A>C |