Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71569894C>A , CM000678.2:g.71569894C>A | GRCh38 |
| NC_000016.9:g.71603797C>A , CM000678.1:g.71603797C>A | GRCh37 |
| NC_000016.8:g.70161298C>A | NCBI36 |
| NG_008235.1:g.12202G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355962.5:c.1085G>T (TAT) MANE Select | ENSP00000348234.4:p.Gly362Val | |
| ENST00000355962.4:c.1085G>T (TAT) | ENSP00000348234.4:p.Gly362Val | |
| ENST00000564007.2:n.41G>T (TAT) | ||
| NM_000353.2:c.1085G>T (TAT) | NP_000344.1:p.Gly362Val | |
| NR_103851.1:n.285-2126C>A (TAT-AS1) | ||
| NR_103852.1:n.259-2126C>A (TAT-AS1) | ||
| NM_000353.3:c.1085G>T (TAT) MANE Select | NP_000344.1:p.Gly362Val |