gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00434135 (NFE)
Genomes Max Group AF
0.00310526 (NFE)
Exomes Max Group AF
0.00442218 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23434247G>A , CM000676.2:g.23434247G>A | GRCh38 |
| NC_000014.8:g.23903456G>A , CM000676.1:g.23903456G>A | GRCh37 |
| NC_000014.7:g.22973296G>A | NCBI36 |
| NG_007884.1:g.6415C>T , LRG_384:g.6415C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.-62C>T MANE Select | ENSP00000347507.3:n.-62C>T | |
| ENST00000355349.3:c.-62C>T | ENSP00000347507.3:n.-62C>T | |
| NM_000257.3:c.-62C>T | NP_000248.2:n.-62C>T | |
| XR_245686.3:n.45C>T | ||
| XM_017021340.1:c.-8-507C>T | XP_016876829.1:n.-8-507C>T | |
| NM_000257.4:c.-62C>T MANE Select | NP_000248.2:n.-62C>T |