dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41213932 (MID)
Genomes Max Group AF
0.40390574 (NFE)
Exomes Max Group AF
0.39532272 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15641087T>G , CM000681.2:g.15641087T>G | GRCh38 |
| NC_000019.9:g.15751897T>G , CM000681.1:g.15751897T>G | GRCh37 |
| NC_000019.8:g.15612897T>G | NCBI36 |
| NG_007964.1:g.5191T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221307.13:c.-2+142T>G MANE Select | ENSP00000221307.6:n.-2+142T>G | |
| ENST00000221307.12:c.-2+142T>G | ENSP00000221307.6:n.-2+142T>G | |
| ENST00000586182.6:c.-2+158T>G | ENSP00000466395.1:n.-2+158T>G | |
| ENST00000591058.5:c.-2+142T>G | ENSP00000466988.1:n.-2+142T>G | |
| ENST00000592279.6:n.49+142T>G | ||
| ENST00000620621.4:c.344-5965T>G | ENSP00000478605.1:n.344-5965T>G | |
| NM_000896.2:c.-2+142T>G | NP_000887.2:n.-2+142T>G | |
| NM_001199208.1:c.-2+142T>G | NP_001186137.1:n.-2+142T>G | |
| NM_001199209.1:c.-2+158T>G | NP_001186138.1:n.-2+158T>G | |
| NM_000896.3:c.-2+142T>G MANE Select | NP_000887.2:n.-2+142T>G | |
| NM_001199208.2:c.-2+142T>G | NP_001186137.1:n.-2+142T>G | |
| NM_001199209.2:c.-2+158T>G | NP_001186138.1:n.-2+158T>G |