Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56975283T>G , CM000678.2:g.56975283T>G | GRCh38 |
| NC_000016.9:g.57009195T>G , CM000678.1:g.57009195T>G | GRCh37 |
| NC_000016.8:g.55566696T>G | NCBI36 |
| NG_008952.1:g.18361T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000078.3:c.981+132T>G MANE Select | NP_000069.2:n.981+132T>G |
| ENST00000200676.8:c.981+132T>G MANE Select | ENSP00000200676.3:n.981+132T>G |
| NM_000078.2:c.981+132T>G | NP_000069.2:n.981+132T>G |
| NM_001286085.1:c.801+132T>G | NP_001273014.1:n.801+132T>G |
| NM_001286085.2:c.801+132T>G | NP_001273014.1:n.801+132T>G |
| ENST00000200676.7:c.981+132T>G | ENSP00000200676.3:n.981+132T>G |
| ENST00000379780.6:c.801+132T>G | ENSP00000369106.2:n.801+132T>G |
| ENST00000566128.1:c.786+132T>G | ENSP00000456276.1:n.786+132T>G |