Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93426349T= , CM000669.2:g.93426349T= | GRCh38 |
| NC_000007.13:g.93055661T= , CM000669.1:g.93055661T= | GRCh37 |
| NC_000007.12:g.92893597T= | NCBI36 |
| NG_013005.1:g.153382A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426151.7:c.*7A= MANE Select | ENSP00000389295.1:n.*7A= | |
| ENST00000649521.1:c.*7A= | ENSP00000497687.1:n.*7A= | |
| ENST00000359558.6:c.*7A= | ENSP00000352561.2:n.*7A= | |
| ENST00000360249.8:c.*942A= | ENSP00000353385.5:n.*942A= | |
| ENST00000394441.5:c.*7A= | ENSP00000377959.1:n.*7A= | |
| ENST00000421592.5:c.*7A= | ENSP00000399552.1:n.*7A= | |
| ENST00000426151.5:c.*7A= | ENSP00000389295.1:n.*7A= | |
| NM_001164737.1:c.*7A= | NP_001158209.1:n.*7A= | |
| NM_001164738.1:c.*7A= | NP_001158210.1:n.*7A= | |
| NM_001742.3:c.*7A= | NP_001733.1:n.*7A= | |
| NM_001164737.2:c.*7A= | NP_001158209.2:n.*7A= | |
| NM_001742.4:c.*7A= MANE Select | NP_001733.1:n.*7A= | |
| NM_001164737.3:c.*7A= | NP_001158209.2:n.*7A= | |
| NM_001164738.2:c.*7A= | NP_001158210.1:n.*7A= |