Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71568789A>G , CM000678.2:g.71568789A>G | GRCh38 |
| NC_000016.9:g.71602692A>G , CM000678.1:g.71602692A>G | GRCh37 |
| NC_000016.8:g.70160193A>G | NCBI36 |
| NG_008235.1:g.13307T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000353.3:c.1146T>C (TAT) MANE Select | NP_000344.1:p.His382= |
| ENST00000355962.5:c.1146T>C (TAT) MANE Select | ENSP00000348234.4:p.His382= |
| NM_000353.2:c.1146T>C (TAT) | NP_000344.1:p.His382= |
| NR_103851.1:n.284+2588A>G (TAT-AS1) | |
| NR_103852.1:n.258+2588A>G (TAT-AS1) | |
| ENST00000355962.4:c.1146T>C (TAT) | ENSP00000348234.4:p.His382= |
| ENST00000564007.2:n.102T>C (TAT) |