Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154905047A= , CM000685.2:g.154905047A= | GRCh38 |
| NC_000023.10:g.154133322A= , CM000685.1:g.154133322A= | GRCh37 |
| NC_000023.9:g.153786516A= | NCBI36 |
| NG_011403.1:g.122677T= | |
| NG_011403.2:g.122677T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5374-24T= MANE Select | ENSP00000353393.4:n.5374-24T= | |
| ENST00000360256.8:c.5374-24T= | ENSP00000353393.4:n.5374-24T= | |
| NM_000132.3:c.5374-24T= | NP_000123.1:n.5374-24T= | |
| XM_011531126.1:c.5269-24T= | XP_011529428.1:n.5269-24T= | |
| NM_000132.4:c.5374-24T= MANE Select | NP_000123.1:n.5374-24T= |