gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06505915 (NFE)
Genomes Max Group AF
0.06657142 (NFE)
Exomes Max Group AF
0.0644935 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32598525G>A , CM000681.2:g.32598525G>A | GRCh38 |
| NC_000019.9:g.33089431G>A , CM000681.1:g.33089431G>A | GRCh37 |
| NC_000019.8:g.37781271G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306065.9:c.2920-147C>T MANE Select | ENSP00000304292.3:n.2920-147C>T | |
| ENST00000306065.8:c.2920-147C>T | ENSP00000304292.3:n.2920-147C>T | |
| ENST00000587667.1:n.389-147C>T | ||
| NM_032139.2:c.2920-147C>T | NP_115515.2:n.2920-147C>T | |
| XM_005259310.2:c.2332-147C>T | XP_005259367.1:n.2332-147C>T | |
| XM_006723412.2:c.2920-147C>T | XP_006723475.1:n.2920-147C>T | |
| XM_017027349.1:c.2332-147C>T | XP_016882838.1:n.2332-147C>T | |
| NM_032139.3:c.2920-147C>T MANE Select | NP_115515.2:n.2920-147C>T |