Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780556C>A , CM000672.2:g.94780556C>A | GRCh38 |
| NC_000010.10:g.96540313C>A , CM000672.1:g.96540313C>A | GRCh37 |
| NC_000010.9:g.96530303C>A | NCBI36 |
| NG_008384.2:g.22851C>A | |
| NG_008384.3:g.22876C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.539C>A MANE Select | NP_000760.1:p.Ser180Tyr |
| ENST00000371321.9:c.539C>A MANE Select | ENSP00000360372.3:p.Ser180Tyr |
| NM_000769.2:c.539C>A | NP_000760.1:p.Ser180Tyr |
| ENST00000371321.7:c.539C>A | ENSP00000360372.3:p.Ser180Tyr |
| ENST00000464755.1:c.1302C>A | ENSP00000483243.1:n.1302C>A |
| ENST00000645461.1:n.1592C>A |