Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173331T>A , CM000678.2:g.173331T>A | GRCh38 |
| NC_000016.9:g.223330T>A , CM000678.1:g.223330T>A | GRCh37 |
| NC_000016.8:g.163330T>A | NCBI36 |
| NG_000006.1:g.34194T>A | |
| NG_059186.1:g.1681T>A | |
| NG_059271.1:g.5485T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.300+2T>A MANE Select | NP_000508.1:n.300+2T>A |
| ENST00000251595.11:c.300+2T>A MANE Select | ENSP00000251595.6:n.300+2T>A |
| NM_000517.4:c.300+2T>A | NP_000508.1:n.300+2T>A |
| ENST00000251595.10:c.300+2T>A | ENSP00000251595.6:n.300+2T>A |
| ENST00000397806.1:c.204+2T>A | ENSP00000380908.1:n.204+2T>A |
| ENST00000482565.1:n.436+2T>A | |
| ENST00000484216.1:n.271T>A |