HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7530017T>G , CM000681.2:g.7530017T>G | GRCh38 |
NC_000019.9:g.7594903T>G , CM000681.1:g.7594903T>G | GRCh37 |
NC_000019.8:g.7500903T>G | NCBI36 |
NG_013374.1:g.866T>G | |
NG_015806.1:g.12408T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.1360-269T>G MANE Select | ENSP00000264079.5:n.1360-269T>G | |
ENST00000264079.10:c.1360-269T>G | ENSP00000264079.5:n.1360-269T>G | |
ENST00000394321.9:n.1675-269T>G | ||
ENST00000594692.1:n.356-269T>G | ||
ENST00000595860.5:n.543-269T>G | ||
ENST00000599334.1:c.236+305T>G | ||
NM_020533.2:c.1360-269T>G | NP_065394.1:n.1360-269T>G | |
NM_020533.3:c.1360-269T>G MANE Select | NP_065394.1:n.1360-269T>G |