HGVS | Genome Assembly |
---|---|
NC_000011.10:g.62576905A>C , CM000673.2:g.62576905A>C | GRCh38 |
NC_000011.9:g.62344377A>C , CM000673.1:g.62344377A>C | GRCh37 |
NC_000011.8:g.62100953A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000476907.6:c.1381+2T>G MANE Select | ENSP00000419607.1:n.1381+2T>G | |
ENST00000308436.11:c.1495+2T>G | ENSP00000308000.7:n.1495+2T>G | |
ENST00000463241.2:n.246+2T>G | ||
ENST00000469480.1:n.189T>G | ||
ENST00000476907.5:c.1381+2T>G | ENSP00000419607.1:n.1381+2T>G | |
ENST00000496634.2:c.1381+2T>G | ENSP00000456163.1:n.1381+2T>G | |
ENST00000526409.5:n.251+2T>G | ||
NM_022830.2:c.1495+2T>G | NP_073741.2:n.1495+2T>G | |
NM_001367906.1:c.1322+2T>G | NP_001354835.1:n.1322+2T>G | |
NM_022830.3:c.1381+2T>G MANE Select | NP_073741.3:n.1381+2T>G |