HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50911086G>T , CM000685.2:g.50911086G>T | GRCh38 |
NC_000023.10:g.50654086G>T , CM000685.1:g.50654086G>T | GRCh37 |
NC_000023.9:g.50670826G>T | NCBI36 |
NG_012894.1:g.5303G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.303G>T MANE Select | ENSP00000252677.3:p.Leu101Phe | |
ENST00000252677.3:c.303G>T | ENSP00000252677.3:p.Leu101Phe | |
NM_005448.2:c.303G>T MANE Select | NP_005439.2:p.Leu101Phe |