Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890337C>A , CM000668.2:g.131890337C>A | GRCh38 |
| NC_000006.11:g.132211477C>A , CM000668.1:g.132211477C>A | GRCh37 |
| NC_000006.10:g.132253170C>A | NCBI36 |
| NG_008206.1:g.87322C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1039-4C>A | ||
| ENST00000647893.1:c.2608-4C>A MANE Select | ENSP00000498074.1:n.2608-4C>A | |
| ENST00000360971.6:c.2608-4C>A | ENSP00000354238.2:n.2608-4C>A | |
| ENST00000513998.5:c.*1445-4C>A | ENSP00000422424.1:n.*1445-4C>A | |
| NM_006208.2:c.2608-4C>A | NP_006199.2:n.2608-4C>A | |
| XM_011535896.1:c.1498-4C>A | XP_011534198.1:n.1498-4C>A | |
| NM_006208.3:c.2608-4C>A MANE Select | NP_006199.2:n.2608-4C>A |