gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35099504 (NFE)
Genomes Max Group AF
0.35099504 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43568650G>A , CM000681.2:g.43568650G>A | GRCh38 |
| NC_000019.9:g.44072802G>A , CM000681.1:g.44072802G>A | GRCh37 |
| NC_000019.8:g.48764642G>A | NCBI36 |
| NG_033799.1:g.11929C>T , LRG_784:g.11929C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.144+6260C>T MANE Select | ENSP00000262887.5:n.144+6260C>T | |
| ENST00000262887.9:c.144+6260C>T | ENSP00000262887.4:n.144+6260C>T | |
| ENST00000543982.5:c.51+6758C>T | ENSP00000443671.1:n.51+6758C>T | |
| ENST00000594107.1:c.144+6260C>T | ENSP00000471159.1:n.144+6260C>T | |
| ENST00000594374.1:c.170-7630C>T | ||
| ENST00000595789.5:n.192+6260C>T | ||
| ENST00000598165.5:c.165+6260C>T | ENSP00000470045.1:n.165+6260C>T | |
| ENST00000599693.5:c.71-7630C>T | ||
| NM_006297.2:c.144+6260C>T , LRG_784t1:c.144+6260C>T | NP_006288.2:n.144+6260C>T | |
| NM_006297.3:c.144+6260C>T MANE Select | NP_006288.2:n.144+6260C>T |