HGVS | Genome Assembly |
---|---|
NC_000010.11:g.47353504C= , CM000672.2:g.47353504C= | GRCh38 |
NC_000010.10:g.48385858G= , CM000672.1:g.48385858G= | GRCh37 |
NC_000010.9:g.48005864G= | NCBI36 |
NG_029718.1:g.10134C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000584701.2:c.3234C= MANE Select | ENSP00000463151.1:p.Ile1078= | |
ENST00000584701.1:c.3234C= | ENSP00000463151.1:p.Ile1078= | |
NM_002900.2:c.3234C= | NP_002891.1:p.Ile1078= | |
NM_002900.3:c.3234C= MANE Select | NP_002891.1:p.Ile1078= |