Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4911925A>C , CM000674.2:g.4911925A>C | GRCh38 |
| NC_000012.11:g.5021091A>C , CM000674.1:g.5021091A>C | GRCh37 |
| NC_000012.10:g.4891352A>C | NCBI36 |
| NG_011815.1:g.7019A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.547A>C MANE Select | ENSP00000371985.3:p.Ile183Leu | |
| ENST00000543874.3:n.105+1453A>C | ||
| ENST00000639306.1:c.385A>C | ENSP00000492506.1:p.Ile129Leu | |
| ENST00000382545.3:c.547A>C | ENSP00000371985.3:p.Ile183Leu | |
| ENST00000541095.1:n.105+1453A>C | ||
| ENST00000543874.2:n.96+1453A>C | ||
| NM_000217.2:c.547A>C | NP_000208.2:p.Ile183Leu | |
| NM_000217.3:c.547A>C MANE Select | NP_000208.2:p.Ile183Leu |