gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65719511 (NFE)
Genomes Max Group AF
0.64600093 (NFE)
Exomes Max Group AF
0.65769437 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32658862G>A , CM000681.2:g.32658862G>A | GRCh38 |
| NC_000019.9:g.33149768G>A , CM000681.1:g.33149768G>A | GRCh37 |
| NC_000019.8:g.37841608G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306065.9:c.102+52C>T MANE Select | ENSP00000304292.3:n.102+52C>T | |
| ENST00000306065.8:c.102+52C>T | ENSP00000304292.3:n.102+52C>T | |
| ENST00000586463.5:c.-534-9070C>T | ENSP00000467447.1:n.-534-9070C>T | |
| ENST00000586693.7:c.102+52C>T | ENSP00000476897.1:n.102+52C>T | |
| ENST00000587352.5:c.102+52C>T | ENSP00000466138.1:n.102+52C>T | |
| ENST00000588700.5:c.102+52C>T | ENSP00000466905.1:n.102+52C>T | |
| ENST00000590519.2:c.102+52C>T | ENSP00000464819.1:n.102+52C>T | |
| ENST00000622502.4:c.102+52C>T | ENSP00000480730.1:n.102+52C>T | |
| NM_032139.2:c.102+52C>T | NP_115515.2:n.102+52C>T | |
| XM_005259310.2:c.-330+52C>T | XP_005259367.1:n.-330+52C>T | |
| XM_006723412.2:c.102+52C>T | XP_006723475.1:n.102+52C>T | |
| XM_017027349.1:c.-330+52C>T | XP_016882838.1:n.-330+52C>T | |
| NM_032139.3:c.102+52C>T MANE Select | NP_115515.2:n.102+52C>T |