Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216112391C>T , CM000664.2:g.216112391C>T | GRCh38 |
| NC_000002.11:g.216977114C>T , CM000664.1:g.216977114C>T | GRCh37 |
| NC_000002.10:g.216685359C>T | NCBI36 |
| NG_029780.1:g.8095C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021141.4:c.22-625C>T MANE Select | NP_066964.1:n.22-625C>T |
| ENST00000392132.7:c.22-625C>T MANE Select | ENSP00000375977.2:n.22-625C>T |
| NM_021141.3:c.22-625C>T | NP_066964.1:n.22-625C>T |
| ENST00000392132.6:c.22-625C>T | ENSP00000375977.2:n.22-625C>T |
| ENST00000392133.7:c.22-625C>T | ENSP00000375978.3:n.22-625C>T |
| ENST00000417391.1:c.-18-625C>T | ENSP00000401318.1:n.-18-625C>T |
| ENST00000429133.5:n.128-625C>T | |
| ENST00000476360.1:n.117-625C>T |