gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20759841T>G , CM000686.2:g.20759841T>G | GRCh38 |
| NC_000024.9:g.22921727T>G , CM000686.1:g.22921727T>G | GRCh37 |
| NC_000024.8:g.21331115T>G | NCBI36 |
| NG_032924.1:g.8774T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629237.2:c.82-27T>G MANE Select | ENSP00000486252.1:n.82-27T>G | |
| ENST00000629237.1:c.82-27T>G | ENSP00000486252.1:n.82-27T>G | |
| NM_001039567.2:c.82-27T>G | NP_001034656.1:n.82-27T>G | |
| XM_011531423.1:c.31-27T>G | XP_011529725.1:n.31-27T>G | |
| NM_001039567.3:c.82-27T>G MANE Select | NP_001034656.1:n.82-27T>G |