Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141303324A= , CM000667.2:g.141303324A= | GRCh38 |
| NC_000005.9:g.140682891A= , CM000667.1:g.140682891A= | GRCh37 |
| NC_000005.8:g.140663075A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686518.1:n.75+17194T= (TAF7) | ||
| ENST00000239451.7:c.542T= (SLC25A2) MANE Select | ENSP00000239451.4:p.Val181= | |
| ENST00000239451.6:c.542T= (SLC25A2) | ENSP00000239451.4:p.Val181= | |
| ENST00000624699.1:n.128+17194T= (TAF7) | ||
| NM_031947.3:c.542T= (SLC25A2) | NP_114153.1:p.Val181= | |
| NM_031947.4:c.542T= (SLC25A2) MANE Select | NP_114153.1:p.Val181= |