Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232543593C>G , CM000664.2:g.232543593C>G | GRCh38 |
| NC_000002.11:g.233408303C>G , CM000664.1:g.233408303C>G | GRCh37 |
| NC_000002.10:g.233116547C>G | NCBI36 |
| NG_012954.1:g.8867C>G | |
| NG_012954.2:g.8902C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.929C>G MANE Select | ENSP00000498757.1:p.Thr310Ser | |
| ENST00000389492.3:c.773C>G | ENSP00000374143.3:p.Thr258Ser | |
| ENST00000389494.7:c.929C>G | ENSP00000374145.3:p.Thr310Ser | |
| NM_005199.4:c.929C>G | NP_005190.4:p.Thr310Ser | |
| NM_005199.5:c.929C>G MANE Select | NP_005190.4:p.Thr310Ser |