Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946281A>C , CM000684.2:g.43946281A>C | GRCh38 |
| NC_000022.10:g.44342161A>C , CM000684.1:g.44342161A>C | GRCh37 |
| NC_000022.9:g.42673494A>C | NCBI36 |
| NG_008631.1:g.27543A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.1345A>C MANE Select | ENSP00000216180.3:p.Ile449Leu | |
| ENST00000216180.7:c.1345A>C | ENSP00000216180.3:p.Ile449Leu | |
| ENST00000406117.6:c.*849+1486A>C | ENSP00000384668.2:n.*849+1486A>C | |
| ENST00000423180.2:c.1333A>C | ENSP00000397987.2:p.Ile445Leu | |
| NM_025225.2:c.1345A>C | NP_079501.2:p.Ile449Leu | |
| NM_025225.3:c.1345A>C MANE Select | NP_079501.2:p.Ile449Leu |