gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31802148 (EAS)
Genomes Max Group AF
0.31802148 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50622900A>T , CM000665.2:g.50622900A>T | GRCh38 |
| NC_000003.11:g.50660331A>T , CM000665.1:g.50660331A>T | GRCh37 |
| NC_000003.10:g.50635335A>T | NCBI36 |
| NG_051548.1:g.16039A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621469.5:c.219+5116A>T MANE Select | ENSP00000478922.1:n.219+5116A>T | |
| ENST00000357955.6:c.219+5116A>T | ENSP00000350639.2:n.219+5116A>T | |
| ENST00000430409.5:c.219+5116A>T | ENSP00000410970.1:n.219+5116A>T | |
| ENST00000446044.5:c.219+5116A>T | ENSP00000396467.1:n.219+5116A>T | |
| ENST00000457064.1:c.219+5116A>T | ENSP00000402045.1:n.219+5116A>T | |
| ENST00000621469.4:c.219+5116A>T | ENSP00000478922.1:n.219+5116A>T | |
| NM_001243925.1:c.219+5116A>T | NP_001230854.1:n.219+5116A>T | |
| NM_001243926.1:c.219+5116A>T | NP_001230855.1:n.219+5116A>T | |
| NM_004635.4:c.219+5116A>T | NP_004626.1:n.219+5116A>T | |
| XR_940501.1:n.341+5116A>T | ||
| XR_940501.2:n.345+5116A>T | ||
| NM_001243925.2:c.219+5116A>T MANE Select | NP_001230854.1:n.219+5116A>T | |
| NM_001243926.2:c.219+5116A>T | NP_001230855.1:n.219+5116A>T | |
| NM_004635.5:c.219+5116A>T | NP_004626.1:n.219+5116A>T |