Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400720C>G , CM000670.2:g.18400720C>G | GRCh38 |
| NC_000008.10:g.18258230C>G , CM000670.1:g.18258230C>G | GRCh37 |
| NC_000008.9:g.18302510C>G | NCBI36 |
| NG_012246.1:g.14476C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000015.3:c.717C>G MANE Select | NP_000006.2:p.Leu239= |
| ENST00000286479.4:c.717C>G MANE Select | ENSP00000286479.3:p.Leu239= |
| NM_000015.2:c.717C>G | NP_000006.2:p.Leu239= |
| ENST00000286479.3:c.717C>G | ENSP00000286479.3:p.Leu239= |
| ENST00000520116.1:c.327C>G | ENSP00000428416.1:p.Leu109= |
| XM_011544358.1:c.717C>G | XP_011542660.1:p.Leu239= |
| XM_017012938.1:c.717C>G | XP_016868427.1:p.Leu239= |