HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18785918A>G , CM000681.2:g.18785918A>G | GRCh38 |
NC_000019.9:g.18896728A>G , CM000681.1:g.18896728A>G | GRCh37 |
NC_000019.8:g.18757728A>G | NCBI36 |
NG_007070.1:g.10387T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1489+47T>C MANE Select | ENSP00000222271.2:n.1489+47T>C | |
ENST00000222271.6:c.1489+47T>C | ENSP00000222271.2:n.1489+47T>C | |
ENST00000425807.1:c.1330+47T>C | ENSP00000403792.1:n.1330+47T>C | |
ENST00000542601.6:c.1390+47T>C | ENSP00000439156.2:n.1390+47T>C | |
NM_000095.2:c.1489+47T>C | NP_000086.2:n.1489+47T>C | |
NM_000095.3:c.1489+47T>C MANE Select | NP_000086.2:n.1489+47T>C |