gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82427967 (NFE)
Genomes Max Group AF
0.82427967 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72995261T>C , CM000678.2:g.72995261T>C | GRCh38 |
| NC_000016.9:g.73029160T>C , CM000678.1:g.73029160T>C | GRCh37 |
| NC_000016.8:g.71586661T>C | NCBI36 |
| NG_013211.1:g.68375A>G | |
| NG_013211.2:g.901671A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268489.10:c.-49-35067A>G MANE Select | ENSP00000268489.5:n.-49-35067A>G | |
| ENST00000641206.2:c.-49-35067A>G | ENSP00000493252.1:n.-49-35067A>G | |
| ENST00000268489.9:c.-49-35067A>G | ENSP00000268489.5:n.-49-35067A>G | |
| ENST00000397992.5:c.-23-44296A>G | ENSP00000438926.3:n.-23-44296A>G | |
| NM_001164766.1:c.-23-44296A>G | NP_001158238.1:n.-23-44296A>G | |
| NM_006885.3:c.-49-35067A>G | NP_008816.3:n.-49-35067A>G | |
| XM_005255957.2:c.-49-35067A>G | XP_005256014.1:n.-49-35067A>G | |
| XM_005255957.4:c.-49-35067A>G | XP_005256014.1:n.-49-35067A>G | |
| XM_017023251.2:c.71-44296A>G | XP_016878740.1:n.71-44296A>G | |
| XM_024450291.1:c.71-44296A>G | XP_024306059.1:n.71-44296A>G | |
| NM_006885.4:c.-49-35067A>G MANE Select | NP_008816.3:n.-49-35067A>G | |
| NM_001164766.2:c.-23-44296A>G | NP_001158238.1:n.-23-44296A>G | |
| NM_001386735.1:c.-49-35067A>G | NP_001373664.1:n.-49-35067A>G |