gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58523143 (NFE)
Genomes Max Group AF
0.58523143 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.79043424T>C , CM000663.2:g.79043424T>C | GRCh38 |
| NC_000001.10:g.79509109T>C , CM000663.1:g.79509109T>C | GRCh37 |
| NC_000001.9:g.79281697T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000655029.1:c.-113-38205A>G | ENSP00000499618.1:n.-113-38205A>G | |
| ENST00000656300.1:c.-80-96998A>G | ENSP00000499265.1:n.-80-96998A>G | |
| ENST00000661030.1:c.-113-38205A>G | ENSP00000499792.1:n.-113-38205A>G | |
| ENST00000662530.1:c.-81+52059A>G | ENSP00000499760.1:n.-81+52059A>G | |
| ENST00000662895.1:c.-81+52059A>G | ENSP00000499579.1:n.-81+52059A>G |