HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15889183A>C , CM000681.2:g.15889183A>C | GRCh38 |
NC_000019.9:g.15999993A>C , CM000681.1:g.15999993A>C | GRCh37 |
NC_000019.8:g.15860993A>C | NCBI36 |
NG_007971.2:g.13892T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221700.11:c.918+240T>G MANE Select | ENSP00000221700.3:n.918+240T>G | |
ENST00000011989.11:c.918+240T>G | ENSP00000011989.8:n.918+240T>G | |
ENST00000221700.10:c.918+240T>G | ENSP00000221700.3:n.918+240T>G | |
ENST00000392846.7:n.861+240T>G | ||
ENST00000587671.2:c.*503+240T>G | ENSP00000467443.2:n.*503+240T>G | |
NM_001082.4:c.918+240T>G | NP_001073.3:n.918+240T>G | |
NM_001082.5:c.918+240T>G MANE Select | NP_001073.3:n.918+240T>G |