gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013791 (NFE)
Genomes Max Group AF
0.00013494 (NFE)
Exomes Max Group AF
0.0001334 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214767467C>A , CM000664.2:g.214767467C>A | GRCh38 |
| NC_000002.11:g.215632191C>A , CM000664.1:g.215632191C>A | GRCh37 |
| NC_000002.10:g.215340436C>A | NCBI36 |
| NG_012047.2:g.47238G>T | |
| NG_012047.3:g.47245G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1568+15G>T MANE Select | ENSP00000260947.4:n.1568+15G>T | |
| ENST00000421162.2:c.216-14912G>T | ENSP00000392245.2:n.216-14912G>T | |
| ENST00000613192.2:c.159-36959G>T | ENSP00000483275.2:n.159-36959G>T | |
| ENST00000613374.5:c.159-14912G>T | ENSP00000484464.1:n.159-14912G>T | |
| ENST00000613706.5:c.1160+15G>T | ENSP00000484976.2:n.1160+15G>T | |
| ENST00000617164.5:c.1511+15G>T | ENSP00000480470.1:n.1511+15G>T | |
| ENST00000619009.5:c.364+24830G>T | ENSP00000482293.1:n.364+24830G>T | |
| ENST00000650978.1:c.2943+15G>T | ||
| ENST00000260947.8:c.1568+15G>T | ENSP00000260947.4:n.1568+15G>T | |
| ENST00000421162.1:c.216-14912G>T | ENSP00000392245.1:n.216-14912G>T | |
| ENST00000455743.5:c.*1188+15G>T | ENSP00000412186.1:n.*1188+15G>T | |
| ENST00000613192.1:c.74-36959G>T | ENSP00000483275.1:n.74-36959G>T | |
| ENST00000613374.4:c.159-14912G>T | ENSP00000484464.1:n.159-14912G>T | |
| ENST00000613706.4:c.216-14912G>T | ENSP00000484976.1:n.216-14912G>T | |
| ENST00000617164.4:c.1511+15G>T | ENSP00000480470.1:n.1511+15G>T | |
| ENST00000619009.4:c.364+24830G>T | ENSP00000482293.1:n.364+24830G>T | |
| ENST00000620057.4:c.*234+15G>T | ENSP00000481988.1:n.*234+15G>T | |
| NM_000465.3:c.1568+15G>T | NP_000456.2:n.1568+15G>T | |
| NM_001282543.1:c.1511+15G>T | NP_001269472.1:n.1511+15G>T | |
| NM_001282545.1:c.216-14912G>T | NP_001269474.1:n.216-14912G>T | |
| NM_001282548.1:c.159-14912G>T | NP_001269477.1:n.159-14912G>T | |
| NM_001282549.1:c.364+24830G>T | NP_001269478.1:n.364+24830G>T | |
| NR_104212.1:n.1561+15G>T | ||
| NR_104215.1:n.1504+15G>T | ||
| NR_104216.1:n.760+15G>T | ||
| XM_011511567.1:c.1514+15G>T | XP_011509869.1:n.1514+15G>T | |
| XM_011511568.1:c.1568+15G>T | XP_011509870.1:n.1568+15G>T | |
| XM_017004613.1:c.1667+15G>T | XP_016860102.1:n.1667+15G>T | |
| XM_017004614.1:c.1667+15G>T | XP_016860103.1:n.1667+15G>T | |
| XR_002959322.1:n.1758+15G>T | ||
| NM_000465.4:c.1568+15G>T MANE Select | NP_000456.2:n.1568+15G>T | |
| NM_001282543.2:c.1511+15G>T | NP_001269472.1:n.1511+15G>T | |
| NM_001282545.2:c.216-14912G>T | NP_001269474.1:n.216-14912G>T | |
| NM_001282548.2:c.159-14912G>T | NP_001269477.1:n.159-14912G>T | |
| NM_001282549.2:c.364+24830G>T | NP_001269478.1:n.364+24830G>T | |
| NR_104212.2:n.1533+15G>T | ||
| NR_104215.2:n.1476+15G>T | ||
| NR_104216.2:n.732+15G>T |