Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694713C>G , CM000685.2:g.153694713C>G | GRCh38 |
| NC_000023.10:g.152960168C>G , CM000685.1:g.152960168C>G | GRCh37 |
| NC_000023.9:g.152613362C>G | NCBI36 |
| NG_012016.1:g.11417C>G | |
| NG_012016.2:g.11417C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005629.4:c.1597-6C>G MANE Select | NP_005620.1:n.1597-6C>G |
| ENST00000253122.10:c.1597-6C>G MANE Select | ENSP00000253122.5:n.1597-6C>G |
| NM_001142805.1:c.1567-6C>G | NP_001136277.1:n.1567-6C>G |
| NM_001142805.2:c.1567-6C>G | NP_001136277.1:n.1567-6C>G |
| NM_001142806.1:c.1252-6C>G | NP_001136278.1:n.1252-6C>G |
| NM_005629.3:c.1597-6C>G | NP_005620.1:n.1597-6C>G |
| ENST00000253122.9:c.1597-6C>G | ENSP00000253122.5:n.1597-6C>G |
| ENST00000430077.6:c.1252-6C>G | ENSP00000403041.2:n.1252-6C>G |
| ENST00000485324.1:n.1904-6C>G |