HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74916169T>C , CM000679.2:g.74916169T>C | GRCh38 |
NC_000017.10:g.72912261T>C , CM000679.1:g.72912261T>C | GRCh37 |
NC_000017.9:g.70423856T>C | NCBI36 |
NG_007882.1:g.12091A>G | |
NG_007882.2:g.12095A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.*1904A>G MANE Select | ENSP00000480279.1:n.*1904A>G | |
ENST00000614341.4:c.*1904A>G | ENSP00000480279.1:n.*1904A>G | |
NM_001282489.2:c.*1904A>G | NP_001269418.1:n.*1904A>G | |
NM_173477.4:c.*1904A>G | NP_775748.2:n.*1904A>G | |
XM_011524296.1:c.*1904A>G | XP_011522598.1:n.*1904A>G | |
XM_011524296.2:c.*1904A>G | XP_011522598.1:n.*1904A>G | |
NM_173477.5:c.*1904A>G MANE Select | NP_775748.2:n.*1904A>G | |
NM_001282489.3:c.*1904A>G | NP_001269418.1:n.*1904A>G |