Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186166911T>G , CM000663.2:g.186166911T>G | GRCh38 |
| NC_000001.10:g.186136043T>G , CM000663.1:g.186136043T>G | GRCh37 |
| NC_000001.9:g.184402666T>G | NCBI36 |
| NG_011841.1:g.437361T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15543T>G MANE Select | ENSP00000271588.4:p.Phe5181Leu | |
| ENST00000271588.8:c.15543T>G | ENSP00000271588.4:p.Phe5181Leu | |
| ENST00000475585.1:n.163-4426T>G | ||
| NM_031935.2:c.15543T>G | NP_114141.2:p.Phe5181Leu | |
| XM_011510037.1:c.15258T>G | XP_011508339.1:p.Phe5086Leu | |
| XM_011510038.1:c.15543T>G | XP_011508340.1:p.Phe5181Leu | |
| XM_011510038.3:c.15543T>G | XP_011508340.1:p.Phe5181Leu | |
| XM_017002437.1:c.13566T>G | XP_016857926.1:p.Phe4522Leu | |
| NM_031935.3:c.15543T>G MANE Select | NP_114141.2:p.Phe5181Leu |