dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133536297T>G , CM000672.2:g.133536297T>G | GRCh38 |
| NC_000010.10:g.135349801T>G , CM000672.1:g.135349801T>G | GRCh37 |
| NC_000010.9:g.135199791T>G | NCBI36 |
| NG_008383.1:g.13935T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.968-766T>G MANE Select | ENSP00000252945.3:n.968-766T>G | |
| ENST00000252945.7:c.968-766T>G | ENSP00000252945.3:n.968-766T>G | |
| ENST00000368520.1:n.1029-766T>G | ||
| ENST00000418356.1:c.557-766T>G | ENSP00000397299.1:n.557-766T>G | |
| ENST00000421586.5:c.707-766T>G | ENSP00000412754.1:n.707-766T>G | |
| ENST00000463117.6:c.968-766T>G | ENSP00000440689.1:n.968-766T>G | |
| ENST00000541080.5:c.384-766T>G | ||
| NM_000773.3:c.968-766T>G | NP_000764.1:n.968-766T>G | |
| NM_000773.4:c.968-766T>G MANE Select | NP_000764.1:n.968-766T>G |