dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133533893C>A , CM000672.2:g.133533893C>A | GRCh38 |
| NG_008383.1:g.11531C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.963C>A MANE Select | ENSP00000252945.3:p.Ile321= | |
| ENST00000252945.7:c.963C>A | ENSP00000252945.3:p.Ile321= | |
| ENST00000368520.1:n.1024C>A | ||
| ENST00000418356.1:c.552C>A | ENSP00000397299.1:p.Ile184= | |
| ENST00000421586.5:c.702C>A | ENSP00000412754.1:p.Ile234= | |
| ENST00000463117.6:c.963C>A | ENSP00000440689.1:p.Ile321= | |
| ENST00000541080.5:c.383+1025C>A | ||
| NM_000773.3:c.963C>A | NP_000764.1:p.Ile321= | |
| NM_000773.4:c.963C>A MANE Select | NP_000764.1:p.Ile321= |