HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50910800T>A , CM000685.2:g.50910800T>A | GRCh38 |
NC_000023.10:g.50653800T>A , CM000685.1:g.50653800T>A | GRCh37 |
NC_000023.9:g.50670540T>A | NCBI36 |
NG_012894.1:g.5017T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.17T>A MANE Select | ENSP00000252677.3:p.Ile6Asn | |
ENST00000252677.3:c.17T>A | ENSP00000252677.3:p.Ile6Asn | |
NM_005448.2:c.17T>A MANE Select | NP_005439.2:p.Ile6Asn |