HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50916258C>A , CM000685.2:g.50916258C>A | GRCh38 |
NC_000023.10:g.50659258C>A , CM000685.1:g.50659258C>A | GRCh37 |
NC_000023.9:g.50675998C>A | NCBI36 |
NG_012894.1:g.10475C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.830C>A MANE Select | ENSP00000252677.3:p.Thr277Asn | |
ENST00000252677.3:c.830C>A | ENSP00000252677.3:p.Thr277Asn | |
NM_005448.2:c.830C>A MANE Select | NP_005439.2:p.Thr277Asn |