gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007293 (SAS)
Genomes Max Group AF
0.00007293 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33418804T>A , CM000681.2:g.33418804T>A | GRCh38 |
| NC_000019.9:g.33909710T>A , CM000681.1:g.33909710T>A | GRCh37 |
| NC_000019.8:g.38601550T>A | NCBI36 |
| NG_013358.1:g.108090A>T | |
| NG_013358.2:g.108090A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.672-5161A>T | ENSP00000468516.4:n.672-5161A>T | |
| ENST00000651901.2:c.672-5161A>T | ENSP00000498922.2:n.672-5161A>T | |
| ENST00000698359.1:c.627-5161A>T | ENSP00000513682.1:n.627-5161A>T | |
| ENST00000698360.1:c.672-5161A>T | ENSP00000513683.1:n.672-5161A>T | |
| ENST00000698361.1:c.672-5161A>T | ENSP00000513684.1:n.672-5161A>T | |
| ENST00000698362.1:c.672-5161A>T | ENSP00000513685.1:n.672-5161A>T | |
| ENST00000698363.1:n.735-5161A>T | ||
| ENST00000698364.1:n.735-5161A>T | ||
| ENST00000698365.1:n.735-5161A>T | ||
| ENST00000698426.1:c.351-5161A>T | ENSP00000513713.1:n.351-5161A>T | |
| ENST00000698427.1:c.714-5161A>T | ENSP00000513714.1:n.714-5161A>T | |
| ENST00000698428.1:c.351-5161A>T | ENSP00000513715.1:n.351-5161A>T | |
| ENST00000698429.1:n.555-5161A>T | ||
| ENST00000698430.1:c.922-5161A>T | ||
| ENST00000698431.1:c.409-5161A>T | ENSP00000513717.1:n.409-5161A>T | |
| ENST00000698432.1:c.481-5161A>T | ||
| ENST00000698435.1:c.360-5161A>T | ENSP00000513719.1:n.360-5161A>T | |
| ENST00000698436.1:c.*284-5161A>T | ENSP00000513720.1:n.*284-5161A>T | |
| ENST00000244137.12:c.672-5161A>T MANE Select | ENSP00000244137.5:n.672-5161A>T | |
| ENST00000588328.6:c.661-5161A>T | ||
| ENST00000590731.6:n.347-5161A>T | ||
| ENST00000651901.1:c.668-5161A>T | ||
| ENST00000244137.11:c.672-5161A>T | ENSP00000244137.5:n.672-5161A>T | |
| ENST00000397032.8:c.549-5161A>T | ENSP00000380226.3:n.549-5161A>T | |
| ENST00000436370.7:c.480-5161A>T | ENSP00000391890.2:n.480-5161A>T | |
| ENST00000588328.5:c.163-5161A>T | ||
| ENST00000588719.5:n.307-5161A>T | ||
| ENST00000590731.5:n.347-5161A>T | ||
| ENST00000593163.5:n.837-5161A>T | ||
| ENST00000609145.5:c.105-5161A>T | ENSP00000476514.1:n.105-5161A>T | |
| NM_000285.3:c.672-5161A>T | NP_000276.2:n.672-5161A>T | |
| NM_001166056.1:c.549-5161A>T | NP_001159528.1:n.549-5161A>T | |
| NM_001166057.1:c.480-5161A>T | NP_001159529.1:n.480-5161A>T | |
| NM_000285.4:c.672-5161A>T MANE Select | NP_000276.2:n.672-5161A>T | |
| NM_001166056.2:c.549-5161A>T | NP_001159528.1:n.549-5161A>T | |
| NM_001166057.2:c.480-5161A>T | NP_001159529.1:n.480-5161A>T |