Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014009T>G , CM000663.2:g.1014009T>G | GRCh38 |
| NC_000001.10:g.949389T>G , CM000663.1:g.949389T>G | GRCh37 |
| NC_000001.9:g.939252T>G | NCBI36 |
| NG_033033.1:g.5543T>G | |
| NG_033033.2:g.17872T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.5T>G | ENSP00000485643.1:p.Leu2Arg | |
| ENST00000649529.1:c.29T>G MANE Select | ENSP00000496832.1:p.Leu10Arg | |
| ENST00000379389.4:c.29T>G | ENSP00000368699.4:p.Leu10Arg | |
| ENST00000624652.1:c.5T>G | ENSP00000485313.1:p.Leu2Arg | |
| ENST00000624697.3:c.5T>G | ENSP00000485643.1:p.Leu2Arg | |
| NM_005101.3:c.29T>G | NP_005092.1:p.Leu10Arg | |
| NM_005101.4:c.29T>G MANE Select | NP_005092.1:p.Leu10Arg |