Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71571623C>A , CM000678.2:g.71571623C>A | GRCh38 |
| NC_000016.9:g.71605526C>A , CM000678.1:g.71605526C>A | GRCh37 |
| NC_000016.8:g.70163027C>A | NCBI36 |
| NG_008235.1:g.10473G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000353.3:c.742G>T (TAT) MANE Select | NP_000344.1:p.Glu248Ter |
| ENST00000355962.5:c.742G>T (TAT) MANE Select | ENSP00000348234.4:p.Glu248Ter |
| NM_000353.2:c.742G>T (TAT) | NP_000344.1:p.Glu248Ter |
| NR_103851.1:n.285-397C>A (TAT-AS1) | |
| NR_103852.1:n.259-397C>A (TAT-AS1) | |
| ENST00000355962.4:c.742G>T (TAT) | ENSP00000348234.4:p.Glu248Ter |