Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41741192G>C , CM000683.2:g.41741192G>C | GRCh38 |
| NC_000021.8:g.43161352G>C , CM000683.1:g.43161352G>C | GRCh37 |
| NC_000021.7:g.42034421G>C | NCBI36 |
| NG_032113.1:g.30898C>G | |
| NG_032113.2:g.30898C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.2001C>G MANE Select | ENSP00000332454.3:p.Thr667= | |
| ENST00000332512.7:c.2001C>G | ENSP00000332454.3:p.Thr667= | |
| ENST00000352483.3:c.2145C>G | ENSP00000330161.2:p.Thr715= | |
| NM_020639.2:c.2001C>G | NP_065690.2:p.Thr667= | |
| NM_020639.3:c.2001C>G MANE Select | NP_065690.2:p.Thr667= |