Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57245407T>G , CM000678.2:g.57245407T>G | GRCh38 |
| NC_000016.9:g.57279319T>G , CM000678.1:g.57279319T>G | GRCh37 |
| NC_000016.8:g.55836820T>G | NCBI36 |
| NG_033905.1:g.5282T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012106.4:c.38+2T>G MANE Select | NP_036238.1:n.38+2T>G |
| ENST00000219204.8:c.38+2T>G MANE Select | ENSP00000219204.3:n.38+2T>G |
| NM_012106.3:c.38+2T>G | NP_036238.1:n.38+2T>G |
| ENST00000219204.7:c.38+2T>G | ENSP00000219204.3:n.38+2T>G |
| ENST00000562023.5:c.38+2T>G | ENSP00000457465.1:n.38+2T>G |
| ENST00000563234.1:c.30+2T>G | |
| ENST00000565794.1:n.147+2T>G |