HGVS | Genome Assembly |
---|---|
NC_000009.12:g.38396596C>A , CM000671.2:g.38396596C>A | GRCh38 |
NC_000009.11:g.38396593C>A , CM000671.1:g.38396593C>A | GRCh37 |
NC_000009.10:g.38386593C>A | NCBI36 |
NG_012253.1:g.8892C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377698.4:c.848C>A MANE Select | ENSP00000366927.3:p.Thr283Asn | |
ENST00000377698.3:c.848C>A | ENSP00000366927.3:p.Thr283Asn | |
NM_000692.4:c.848C>A | NP_000683.3:p.Thr283Asn | |
XM_011517802.1:c.848C>A | XP_011516104.1:p.Thr283Asn | |
XM_011517802.2:c.848C>A | XP_011516104.1:p.Thr283Asn | |
NM_000692.5:c.848C>A MANE Select | NP_000683.3:p.Thr283Asn |