HGVS | Genome Assembly |
---|---|
NC_000010.11:g.47350216A>C , CM000672.2:g.47350216A>C | GRCh38 |
NC_000010.10:g.48389146T>G , CM000672.1:g.48389146T>G | GRCh37 |
NC_000010.9:g.48009152T>G | NCBI36 |
NG_029718.1:g.6846A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000584701.2:c.1732A>C MANE Select | ENSP00000463151.1:p.Thr578Pro | |
ENST00000584701.1:c.1732A>C | ENSP00000463151.1:p.Thr578Pro | |
NM_002900.2:c.1732A>C | NP_002891.1:p.Thr578Pro | |
NM_002900.3:c.1732A>C MANE Select | NP_002891.1:p.Thr578Pro |