Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135445318T>C , CM000667.2:g.135445318T>C | GRCh38 |
| NC_000005.9:g.134781008T>C , CM000667.1:g.134781008T>C | GRCh37 |
| NC_000005.8:g.134808907T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537858.2:c.*4136A>G (TIFAB) MANE Select | ENSP00000440509.1:n.*4136A>G | |
| ENST00000503143.3:c.*1056A>G (DCANP1) MANE Select | ENSP00000421871.1:n.*1056A>G | |
| ENST00000537858.1:c.*4136A>G (TIFAB) | ENSP00000440509.1:n.*4136A>G | |
| NM_130848.2:c.*1056A>G (DCANP1) | NP_570900.1:n.*1056A>G | |
| NM_001099221.2:c.*4136A>G (TIFAB) MANE Select | NP_001092691.1:n.*4136A>G | |
| NM_130848.3:c.*1056A>G (DCANP1) MANE Select | NP_570900.1:n.*1056A>G |