gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006787 (NFE)
Genomes Max Group AF
0.0000681 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142612050C>A , CM000670.2:g.142612050C>A | GRCh38 |
| NC_000008.10:g.143693411C>A , CM000670.1:g.143693411C>A | GRCh37 |
| NC_000008.9:g.143690413C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356613.4:c.*742+58G>T MANE Select | ENSP00000349022.2:n.*742+58G>T | |
| ENST00000356613.3:c.*742+58G>T | ENSP00000349022.2:n.*742+58G>T | |
| NM_015193.4:c.*742+58G>T | NP_056008.1:n.*742+58G>T | |
| NM_015193.5:c.*742+58G>T MANE Select | NP_056008.1:n.*742+58G>T |