Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780502C>G , CM000672.2:g.94780502C>G | GRCh38 |
| NC_000010.10:g.96540259C>G , CM000672.1:g.96540259C>G | GRCh37 |
| NC_000010.9:g.96530249C>G | NCBI36 |
| NG_008384.2:g.22797C>G | |
| NG_008384.3:g.22822C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.485C>G MANE Select | NP_000760.1:p.Ser162Ter |
| ENST00000371321.9:c.485C>G MANE Select | ENSP00000360372.3:p.Ser162Ter |
| NM_000769.2:c.485C>G | NP_000760.1:p.Ser162Ter |
| ENST00000371321.7:c.485C>G | ENSP00000360372.3:p.Ser162Ter |
| ENST00000464755.1:c.1248C>G | ENSP00000483243.1:n.1248C>G |
| ENST00000645461.1:n.1538C>G |