Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186166811T>A , CM000663.2:g.186166811T>A | GRCh38 |
| NC_000001.10:g.186135943T>A , CM000663.1:g.186135943T>A | GRCh37 |
| NC_000001.9:g.184402566T>A | NCBI36 |
| NG_011841.1:g.437261T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15443T>A MANE Select | ENSP00000271588.4:p.Ile5148Asn | |
| ENST00000271588.8:c.15443T>A | ENSP00000271588.4:p.Ile5148Asn | |
| ENST00000475585.1:n.163-4526T>A | ||
| NM_031935.2:c.15443T>A | NP_114141.2:p.Ile5148Asn | |
| XM_011510037.1:c.15158T>A | XP_011508339.1:p.Ile5053Asn | |
| XM_011510038.1:c.15443T>A | XP_011508340.1:p.Ile5148Asn | |
| XM_011510038.3:c.15443T>A | XP_011508340.1:p.Ile5148Asn | |
| XM_017002437.1:c.13466T>A | XP_016857926.1:p.Ile4489Asn | |
| NM_031935.3:c.15443T>A MANE Select | NP_114141.2:p.Ile5148Asn |