Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133353951A= , CM000671.2:g.133353951A= | GRCh38 |
| NC_000009.10:g.135210627A= | NCBI36 |
| NG_008477.1:g.7556T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.324-11T= MANE Select | NP_003163.1:n.324-11T= |
| ENST00000371974.8:c.324-11T= MANE Select | ENSP00000361042.3:n.324-11T= |
| NM_001280787.1:c.-4-11T= | NP_001267716.1:n.-4-11T= |
| NM_003172.3:c.324-11T= | NP_003163.1:n.324-11T= |
| ENST00000371974.7:c.324-11T= | ENSP00000361042.3:n.324-11T= |
| ENST00000437995.1:n.270-11T= | |
| ENST00000495952.5:n.303T= | |
| ENST00000615505.4:c.-4-11T= | ENSP00000482067.1:n.-4-11T= |
| XM_011518942.1:c.-4-11T= | XP_011517244.1:n.-4-11T= |