HGVS | Genome Assembly |
---|---|
NC_000002.12:g.233618445C>G , CM000664.2:g.233618445C>G | GRCh38 |
NC_000002.11:g.234527091C>G , CM000664.1:g.234527091C>G | GRCh37 |
NC_000002.10:g.234191830C>G | NCBI36 |
NG_002601.2:g.33702C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373450.5:c.738C>G MANE Select | ENSP00000362549.4:p.Ser246Arg | |
ENST00000373450.4:c.738C>G | ENSP00000362549.4:p.Ser246Arg | |
NM_019076.4:c.738C>G | NP_061949.3:p.Ser246Arg | |
NM_019076.5:c.738C>G MANE Select | NP_061949.3:p.Ser246Arg |