Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131877170C= , CM000668.2:g.131877170C= | GRCh38 |
| NC_000006.11:g.132198310C= , CM000668.1:g.132198310C= | GRCh37 |
| NC_000006.10:g.132240003C= | NCBI36 |
| NG_008206.1:g.74155C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683687.1:n.774C= | ||
| ENST00000684536.1:n.400C= | ||
| ENST00000647893.1:c.1893+9C= MANE Select | ENSP00000498074.1:n.1893+9C= | |
| ENST00000647981.1:n.578+9C= | ||
| ENST00000650437.1:c.1393C= | ||
| ENST00000360971.6:c.1893+9C= | ENSP00000354238.2:n.1893+9C= | |
| ENST00000459624.1:n.946C= | ||
| ENST00000513998.5:c.*730+9C= | ENSP00000422424.1:n.*730+9C= | |
| NM_006208.2:c.1893+9C= | NP_006199.2:n.1893+9C= | |
| XM_011535896.1:c.783+9C= | XP_011534198.1:n.783+9C= | |
| NM_006208.3:c.1893+9C= MANE Select | NP_006199.2:n.1893+9C= |