HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50910968T>G , CM000685.2:g.50910968T>G | GRCh38 |
NC_000023.10:g.50653968T>G , CM000685.1:g.50653968T>G | GRCh37 |
NC_000023.9:g.50670708T>G | NCBI36 |
NG_012894.1:g.5185T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.185T>G MANE Select | ENSP00000252677.3:p.Leu62Arg | |
ENST00000252677.3:c.185T>G | ENSP00000252677.3:p.Leu62Arg | |
NM_005448.2:c.185T>G MANE Select | NP_005439.2:p.Leu62Arg |