Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173175T>G , CM000678.2:g.173175T>G | GRCh38 |
| NC_000016.9:g.223174T>G , CM000678.1:g.223174T>G | GRCh37 |
| NC_000016.8:g.163174T>G | NCBI36 |
| NG_000006.1:g.34038T>G | |
| NG_059186.1:g.1525T>G | |
| NG_059271.1:g.5329T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.146T>G MANE Select | NP_000508.1:p.Leu49Arg |
| ENST00000251595.11:c.146T>G MANE Select | ENSP00000251595.6:p.Leu49Arg |
| NM_000517.4:c.146T>G | NP_000508.1:p.Leu49Arg |
| ENST00000251595.10:c.146T>G | ENSP00000251595.6:p.Leu49Arg |
| ENST00000397806.1:c.50T>G | ENSP00000380908.1:p.Leu17Arg |
| ENST00000482565.1:n.282T>G | |
| ENST00000484216.1:n.115T>G |