Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762749T>G , CM000672.2:g.94762749T>G | GRCh38 |
| NC_000010.10:g.96522506T>G , CM000672.1:g.96522506T>G | GRCh37 |
| NC_000010.9:g.96512496T>G | NCBI36 |
| NG_008384.2:g.5044T>G | |
| NG_008384.3:g.5069T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.44T>G MANE Select | ENSP00000360372.3:p.Leu15Arg | |
| ENST00000371321.7:c.44T>G | ENSP00000360372.3:p.Leu15Arg | |
| ENST00000464755.1:c.932-12309T>G | ENSP00000483243.1:n.932-12309T>G | |
| ENST00000480405.2:c.44T>G | ENSP00000483847.1:p.Leu15Arg | |
| NM_000769.2:c.44T>G | NP_000760.1:p.Leu15Arg | |
| NM_000769.4:c.44T>G MANE Select | NP_000760.1:p.Leu15Arg |