gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97628748 (EAS)
Genomes Max Group AF
0.97628748 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.134223595G>A , CM000668.2:g.134223595G>A | GRCh38 |
| NC_000006.11:g.134544733G>A , CM000668.1:g.134544733G>A | GRCh37 |
| NC_000006.10:g.134586426G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367858.10:c.286-16164C>T MANE Select | ENSP00000356832.5:n.286-16164C>T | |
| ENST00000367858.9:c.286-16164C>T | ENSP00000356832.5:n.286-16164C>T | |
| ENST00000460769.1:c.128-8502C>T | ||
| ENST00000461976.2:c.193-16164C>T | ENSP00000435577.1:n.193-16164C>T | |
| ENST00000484353.1:n.86-16164C>T | ||
| ENST00000485771.1:n.83-4823C>T | ||
| ENST00000524387.5:n.68+6805C>T | ||
| ENST00000531575.5:n.86-16164C>T | ||
| NM_001143676.1:c.286-16164C>T | NP_001137148.1:n.286-16164C>T | |
| XM_011536071.1:c.286-16164C>T | XP_011534373.1:n.286-16164C>T | |
| XR_001744360.2:n.344-4823C>T | ||
| NM_001143676.3:c.286-16164C>T MANE Select | NP_001137148.1:n.286-16164C>T |