HGVS | Genome Assembly |
---|---|
NC_000003.12:g.48467805C>A , CM000665.2:g.48467805C>A | GRCh38 |
NC_000003.11:g.48509204C>A , CM000665.1:g.48509204C>A | GRCh37 |
NC_000003.10:g.48484208C>A | NCBI36 |
NG_009820.1:g.6976C>A | |
NG_033100.1:g.38056G>T | |
NG_009820.2:g.6976C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296444.6:c.*1302G>T | ENSP00000296444.2:n.*1302G>T | |
ENST00000619810.4:c.*1302G>T | ENSP00000484992.1:n.*1302G>T | |
NM_001272065.1:c.*1302G>T | NP_001258994.1:n.*1302G>T | |
NM_001272066.1:c.*1302G>T | NP_001258995.1:n.*1302G>T | |
NM_001272067.1:c.*1302G>T | NP_001258996.1:n.*1302G>T | |
NM_001272068.1:c.*1302G>T | NP_001258997.1:n.*1302G>T | |
NM_001272082.1:c.*1302G>T | NP_001259011.1:n.*1302G>T | |
NM_001272083.1:c.*1533G>T | NP_001259012.1:n.*1533G>T | |
NM_016479.4:c.*1302G>T | NP_057563.3:n.*1302G>T |