HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74339468T>C , CM000677.2:g.74339468T>C | GRCh38 |
NC_000015.9:g.74631809T>C , CM000677.1:g.74631809T>C | GRCh37 |
NC_000015.8:g.72418862T>C | NCBI36 |
NG_007973.1:g.33274A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000268053.11:c.1157+119A>G MANE Select | ENSP00000268053.6:n.1157+119A>G | |
ENST00000268053.10:c.1157+119A>G | ENSP00000268053.6:n.1157+119A>G | |
ENST00000358632.8:c.683+119A>G | ENSP00000351455.4:n.683+119A>G | |
ENST00000435365.5:c.1157+119A>G | ENSP00000391081.1:n.1157+119A>G | |
NM_000781.2:c.1157+119A>G | NP_000772.2:n.1157+119A>G | |
NM_001099773.1:c.683+119A>G | NP_001093243.1:n.683+119A>G | |
NM_000781.3:c.1157+119A>G MANE Select | NP_000772.2:n.1157+119A>G | |
NM_001099773.2:c.683+119A>G | NP_001093243.1:n.683+119A>G |