gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41436626 (NFE)
Genomes Max Group AF
0.41436626 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.62710426T>C , CM000676.2:g.62710426T>C | GRCh38 |
| NC_000014.8:g.63177144T>C , CM000676.1:g.63177144T>C | GRCh37 |
| NC_000014.7:g.62246897T>C | NCBI36 |
| NG_034062.1:g.339813A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322893.12:c.2020-1971A>G MANE Select | ENSP00000321427.7:n.2020-1971A>G | |
| ENST00000322893.11:c.2020-1971A>G | ENSP00000321427.7:n.2020-1971A>G | |
| ENST00000420622.6:c.1823-1971A>G | ENSP00000395439.2:n.1823-1971A>G | |
| NM_139318.4:c.2020-1971A>G | NP_647479.2:n.2020-1971A>G | |
| NM_172375.2:c.1823-1971A>G | NP_758963.1:n.1823-1971A>G | |
| NM_139318.5:c.2020-1971A>G MANE Select | NP_647479.2:n.2020-1971A>G | |
| NM_172375.3:c.1823-1971A>G | NP_758963.1:n.1823-1971A>G |