Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131863968A= , CM000668.2:g.131863968A= | GRCh38 |
| NC_000006.11:g.132185108A= , CM000668.1:g.132185108A= | GRCh37 |
| NC_000006.10:g.132226801A= | NCBI36 |
| NG_008206.1:g.60953A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006208.3:c.1026-538A= MANE Select | NP_006199.2:n.1026-538A= |
| ENST00000647893.1:c.1026-538A= MANE Select | ENSP00000498074.1:n.1026-538A= |
| NM_006208.2:c.1026-538A= | NP_006199.2:n.1026-538A= |
| ENST00000360971.6:c.1026-538A= | ENSP00000354238.2:n.1026-538A= |
| ENST00000459624.1:n.96-538A= | |
| ENST00000513998.5:c.1026-538A= | ENSP00000422424.1:n.1026-538A= |
| ENST00000650147.1:c.643-538A= | |
| ENST00000650437.1:c.517-538A= |