Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173379T= , CM000678.2:g.173379T= | GRCh38 |
| NC_000016.9:g.223378T= , CM000678.1:g.223378T= | GRCh37 |
| NC_000016.8:g.163378T= | NCBI36 |
| NG_000006.1:g.34242T= | |
| NG_059186.1:g.1729T= | |
| NG_059271.1:g.5533T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.300+50T= MANE Select | ENSP00000251595.6:n.300+50T= | |
| ENST00000251595.10:c.300+50T= | ENSP00000251595.6:n.300+50T= | |
| ENST00000397806.1:c.204+50T= | ENSP00000380908.1:n.204+50T= | |
| ENST00000482565.1:n.436+50T= | ||
| ENST00000484216.1:n.319T= | ||
| NM_000517.4:c.300+50T= | NP_000508.1:n.300+50T= | |
| NM_000517.6:c.300+50T= MANE Select | NP_000508.1:n.300+50T= |