HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94056741A>C , CM000663.2:g.94056741A>C | GRCh38 |
NC_000001.10:g.94522297A>C , CM000663.1:g.94522297A>C | GRCh37 |
NC_000001.9:g.94294885A>C | NCBI36 |
NG_009073.1:g.69409T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000370225.4:c.2242T>G MANE Select | ENSP00000359245.3:p.Cys748Gly | |
ENST00000649773.1:c.2161-1426T>G | ENSP00000496882.1:n.2161-1426T>G | |
ENST00000370225.3:c.2242T>G | ENSP00000359245.3:p.Cys748Gly | |
ENST00000536513.5:c.-65+6433T>G | ENSP00000439707.2:n.-65+6433T>G | |
NM_000350.2:c.2242T>G | NP_000341.2:p.Cys748Gly | |
NM_000350.3:c.2242T>G MANE Select | NP_000341.2:p.Cys748Gly |