Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956565A= , CM000670.2:g.24956565A= | GRCh38 |
| NC_000008.10:g.24814079A= , CM000670.1:g.24814079A= | GRCh37 |
| NC_000008.9:g.24869996A= | NCBI36 |
| NG_008492.1:g.5053T= , LRG_259:g.5053T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.-50T= MANE Select | ENSP00000482169.2:n.-50T= | |
| ENST00000610854.1:c.-50T= | ENSP00000482169.1:n.-50T= | |
| ENST00000615973.1:n.157T= | ||
| ENST00000619417.1:c.-50T= | ENSP00000483690.1:n.-50T= | |
| NM_006158.4:c.-50T= , LRG_259t1:c.-50T= | NP_006149.2:n.-50T= | |
| NM_006158.5:c.-50T= MANE Select | NP_006149.2:n.-50T= |