Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74339751C>G , CM000677.2:g.74339751C>G | GRCh38 |
| NC_000015.9:g.74632092C>G , CM000677.1:g.74632092C>G | GRCh37 |
| NC_000015.8:g.72419145C>G | NCBI36 |
| NG_007973.1:g.32991G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268053.11:c.993G>C MANE Select | ENSP00000268053.6:p.Thr331= | |
| ENST00000268053.10:c.993G>C | ENSP00000268053.6:p.Thr331= | |
| ENST00000358632.8:c.519G>C | ENSP00000351455.4:p.Thr173= | |
| ENST00000435365.5:c.993G>C | ENSP00000391081.1:p.Thr331= | |
| ENST00000566674.5:c.519G>C | ENSP00000456941.1:p.Thr173= | |
| NM_000781.2:c.993G>C | NP_000772.2:p.Thr331= | |
| NM_001099773.1:c.519G>C | NP_001093243.1:p.Thr173= | |
| NM_000781.3:c.993G>C MANE Select | NP_000772.2:p.Thr331= | |
| NM_001099773.2:c.519G>C | NP_001093243.1:p.Thr173= |