gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56812862 (EAS)
Genomes Max Group AF
0.56812862 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39364970T>C , CM000666.2:g.39364970T>C | GRCh38 |
| NC_000004.11:g.39366590T>C , CM000666.1:g.39366590T>C | GRCh37 |
| NC_000004.10:g.39042985T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349703.7:c.3+1269A>G MANE Select | ENSP00000261424.4:n.3+1269A>G | |
| ENST00000349703.6:c.3+1269A>G | ENSP00000261424.4:n.3+1269A>G | |
| ENST00000381897.5:c.3+1269A>G | ENSP00000371321.1:n.3+1269A>G | |
| ENST00000418436.5:n.124+1269A>G | ||
| ENST00000503784.1:c.3+1269A>G | ENSP00000422740.1:n.3+1269A>G | |
| ENST00000504849.5:n.97+1269A>G | ||
| ENST00000512275.5:c.3+1269A>G | ENSP00000422475.1:n.3+1269A>G | |
| NM_001204747.1:c.3+1269A>G | NP_001191676.1:n.3+1269A>G | |
| NM_002913.4:c.3+1269A>G | NP_002904.3:n.3+1269A>G | |
| XM_011513730.1:c.3+1269A>G | XP_011512032.1:n.3+1269A>G | |
| XM_011513731.1:c.3+1269A>G | XP_011512033.1:n.3+1269A>G | |
| NM_001363495.1:c.3+1269A>G | NP_001350424.1:n.3+1269A>G | |
| NM_001363496.1:c.3+1269A>G | NP_001350425.1:n.3+1269A>G | |
| NM_002913.5:c.3+1269A>G MANE Select | NP_002904.3:n.3+1269A>G | |
| NM_001204747.2:c.3+1269A>G | NP_001191676.1:n.3+1269A>G | |
| NM_001363495.2:c.3+1269A>G | NP_001350424.1:n.3+1269A>G | |
| NM_001363496.2:c.3+1269A>G | NP_001350425.1:n.3+1269A>G |