Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186166810A>C , CM000663.2:g.186166810A>C | GRCh38 |
| NC_000001.10:g.186135942A>C , CM000663.1:g.186135942A>C | GRCh37 |
| NC_000001.9:g.184402565A>C | NCBI36 |
| NG_011841.1:g.437260A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15442A>C MANE Select | ENSP00000271588.4:p.Ile5148Leu | |
| ENST00000271588.8:c.15442A>C | ENSP00000271588.4:p.Ile5148Leu | |
| ENST00000475585.1:n.163-4527A>C | ||
| NM_031935.2:c.15442A>C | NP_114141.2:p.Ile5148Leu | |
| XM_011510037.1:c.15157A>C | XP_011508339.1:p.Ile5053Leu | |
| XM_011510038.1:c.15442A>C | XP_011508340.1:p.Ile5148Leu | |
| XM_011510038.3:c.15442A>C | XP_011508340.1:p.Ile5148Leu | |
| XM_017002437.1:c.13465A>C | XP_016857926.1:p.Ile4489Leu | |
| NM_031935.3:c.15442A>C MANE Select | NP_114141.2:p.Ile5148Leu |