Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71568259C>T , CM000678.2:g.71568259C>T | GRCh38 |
| NC_000016.9:g.71602162C>T , CM000678.1:g.71602162C>T | GRCh37 |
| NC_000016.8:g.70159663C>T | NCBI36 |
| NG_008235.1:g.13837G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000353.3:c.1250G>A (TAT) MANE Select | NP_000344.1:p.Arg417Gln |
| ENST00000355962.5:c.1250G>A (TAT) MANE Select | ENSP00000348234.4:p.Arg417Gln |
| NM_000353.2:c.1250G>A (TAT) | NP_000344.1:p.Arg417Gln |
| NR_103851.1:n.284+2058C>T (TAT-AS1) | |
| NR_103852.1:n.258+2058C>T (TAT-AS1) | |
| ENST00000355962.4:c.1250G>A (TAT) | ENSP00000348234.4:p.Arg417Gln |
| ENST00000564007.2:n.632G>A (TAT) |