HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787261T>C , CM000681.2:g.18787261T>C | GRCh38 |
NC_000019.9:g.18898070T>C , CM000681.1:g.18898070T>C | GRCh37 |
NC_000019.8:g.18759070T>C | NCBI36 |
NG_007070.1:g.9045A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1135+230A>G MANE Select | ENSP00000222271.2:n.1135+230A>G | |
ENST00000222271.6:c.1135+230A>G | ENSP00000222271.2:n.1135+230A>G | |
ENST00000425807.1:c.976+230A>G | ENSP00000403792.1:n.976+230A>G | |
ENST00000542601.6:c.1036+230A>G | ENSP00000439156.2:n.1036+230A>G | |
NM_000095.2:c.1135+230A>G | NP_000086.2:n.1135+230A>G | |
NM_000095.3:c.1135+230A>G MANE Select | NP_000086.2:n.1135+230A>G |