HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50910825A>G , CM000685.2:g.50910825A>G | GRCh38 |
NC_000023.10:g.50653825A>G , CM000685.1:g.50653825A>G | GRCh37 |
NC_000023.9:g.50670565A>G | NCBI36 |
NG_012894.1:g.5042A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.42A>G MANE Select | ENSP00000252677.3:p.Glu14= | |
ENST00000252677.3:c.42A>G | ENSP00000252677.3:p.Glu14= | |
NM_005448.2:c.42A>G MANE Select | NP_005439.2:p.Glu14= |