HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50915814A>G , CM000685.2:g.50915814A>G | GRCh38 |
NC_000023.10:g.50658814A>G , CM000685.1:g.50658814A>G | GRCh37 |
NC_000023.9:g.50675554A>G | NCBI36 |
NG_012894.1:g.10031A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.386A>G MANE Select | ENSP00000252677.3:p.Gln129Arg | |
ENST00000252677.3:c.386A>G | ENSP00000252677.3:p.Gln129Arg | |
NM_005448.2:c.386A>G MANE Select | NP_005439.2:p.Gln129Arg |