Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123574C>G , CM000679.2:g.72123574C>G | GRCh38 |
| NC_000017.10:g.70119715C>G , CM000679.1:g.70119715C>G | GRCh37 |
| NC_000017.9:g.67631310C>G | NCBI36 |
| NG_012490.1:g.7555C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.717C>G MANE Select | ENSP00000245479.2:p.Thr239= | |
| ENST00000245479.2:c.717C>G | ENSP00000245479.2:p.Thr239= | |
| NM_000346.3:c.717C>G | NP_000337.1:p.Thr239= | |
| NM_000346.4:c.717C>G MANE Select | NP_000337.1:p.Thr239= |