HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50911097C>T , CM000685.2:g.50911097C>T | GRCh38 |
NC_000023.10:g.50654097C>T , CM000685.1:g.50654097C>T | GRCh37 |
NC_000023.9:g.50670837C>T | NCBI36 |
NG_012894.1:g.5314C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.314C>T MANE Select | ENSP00000252677.3:p.Ala105Val | |
ENST00000252677.3:c.314C>T | ENSP00000252677.3:p.Ala105Val | |
NM_005448.2:c.314C>T MANE Select | NP_005439.2:p.Ala105Val |