gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75909476 (AFR)
Genomes Max Group AF
0.75909476 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101493209C>T , CM000675.2:g.101493209C>T | GRCh38 |
| NC_000013.10:g.102145560C>T , CM000675.1:g.102145560C>T | GRCh37 |
| NC_000013.9:g.100943561C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376180.8:c.316+39109C>T MANE Select | ENSP00000365351.3:n.316+39109C>T | |
| ENST00000376162.7:c.37+3209C>T | ENSP00000365332.3:n.37+3209C>T | |
| ENST00000376180.7:c.316+39109C>T | ENSP00000365351.3:n.316+39109C>T | |
| ENST00000545560.6:c.-108+40278C>T | ENSP00000439903.1:n.-108+40278C>T | |
| ENST00000618057.4:c.316+39109C>T | ENSP00000481484.1:n.316+39109C>T | |
| ENST00000622834.4:c.42+39109C>T | ENSP00000481065.1:n.42+39109C>T | |
| NM_001271754.1:c.-108+40278C>T | NP_001258683.1:n.-108+40278C>T | |
| NM_001271755.1:c.316+39109C>T | NP_001258684.1:n.316+39109C>T | |
| NM_001271756.1:c.37+3209C>T | NP_001258685.1:n.37+3209C>T | |
| NM_004791.2:c.316+39109C>T | NP_004782.1:n.316+39109C>T | |
| XM_005254100.3:c.316+39109C>T | XP_005254157.1:n.316+39109C>T | |
| XR_931619.1:n.515+39109C>T | ||
| XM_005254100.5:c.316+39109C>T | XP_005254157.1:n.316+39109C>T | |
| NM_004791.3:c.316+39109C>T MANE Select | NP_004782.1:n.316+39109C>T | |
| NM_001271754.2:c.-108+40278C>T | NP_001258683.1:n.-108+40278C>T | |
| NM_001271755.2:c.316+39109C>T | NP_001258684.1:n.316+39109C>T | |
| NM_001271756.2:c.37+3209C>T | NP_001258685.1:n.37+3209C>T |