HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94056741A>G , CM000663.2:g.94056741A>G | GRCh38 |
NC_000001.10:g.94522297A>G , CM000663.1:g.94522297A>G | GRCh37 |
NC_000001.9:g.94294885A>G | NCBI36 |
NG_009073.1:g.69409T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.2242T>C MANE Select | ENSP00000359245.3:p.Cys748Arg | |
ENST00000649773.1:c.2161-1426T>C | ENSP00000496882.1:n.2161-1426T>C | |
ENST00000370225.3:c.2242T>C | ENSP00000359245.3:p.Cys748Arg | |
ENST00000536513.5:c.-65+6433T>C | ENSP00000439707.2:n.-65+6433T>C | |
NM_000350.2:c.2242T>C | NP_000341.2:p.Cys748Arg | |
NM_000350.3:c.2242T>C MANE Select | NP_000341.2:p.Cys748Arg |