Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116592967T= , CM000668.2:g.116592967T= | GRCh38 |
| NC_000006.11:g.116914130T= , CM000668.1:g.116914130T= | GRCh37 |
| NC_000006.10:g.117020823T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466444.7:c.611-13T= MANE Select | ENSP00000420357.2:n.611-13T= | |
| ENST00000466444.6:c.611-13T= | ENSP00000420357.2:n.611-13T= | |
| ENST00000487832.6:c.323-13T= | ENSP00000428778.1:n.323-13T= | |
| NM_001007464.2:c.323-13T= | NP_001007465.1:n.323-13T= | |
| NM_015952.3:c.611-13T= | NP_057036.2:n.611-13T= | |
| NM_016104.3:c.323-13T= | NP_057188.2:n.323-13T= | |
| NM_015952.4:c.611-13T= MANE Select | NP_057036.2:n.611-13T= | |
| NM_001007464.3:c.323-13T= | NP_001007465.1:n.323-13T= | |
| NM_016104.4:c.323-13T= | NP_057188.2:n.323-13T= |