gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12230006 (NFE)
Genomes Max Group AF
0.12230006 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69938047G>T , CM000674.2:g.69938047G>T | GRCh38 |
| NC_000012.11:g.70331827G>T , CM000674.1:g.70331827G>T | GRCh37 |
| NC_000012.10:g.68618094G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552032.7:c.2224+1415G>T MANE Select | ENSP00000448753.2:n.2224+1415G>T | |
| ENST00000299350.5:c.319+1415G>T | ENSP00000299350.5:n.319+1415G>T | |
| ENST00000535034.5:c.319+1415G>T | ENSP00000440626.1:n.319+1415G>T | |
| ENST00000547771.6:c.2191+1415G>T | ENSP00000449598.2:n.2191+1415G>T | |
| ENST00000548892.5:c.618+1415G>T | ||
| ENST00000552032.6:c.2224+1415G>T | ENSP00000448753.2:n.2224+1415G>T | |
| NM_182530.2:c.2224+1415G>T | NP_872336.2:n.2224+1415G>T | |
| XM_011539047.1:c.2320+1415G>T | XP_011537349.1:n.2320+1415G>T | |
| XM_011539048.1:c.2281+1415G>T | XP_011537350.1:n.2281+1415G>T | |
| XM_011539049.1:c.2254+1415G>T | XP_011537351.1:n.2254+1415G>T | |
| XM_011539051.1:c.1897+1415G>T | XP_011537353.1:n.1897+1415G>T | |
| XM_011539052.1:c.1885+1415G>T | XP_011537354.1:n.1885+1415G>T | |
| XM_011539053.1:c.2320+1415G>T | XP_011537355.1:n.2320+1415G>T | |
| XM_011539054.1:c.1783+1415G>T | XP_011537356.1:n.1783+1415G>T | |
| XM_011539055.1:c.1783+1415G>T | XP_011537357.1:n.1783+1415G>T | |
| XM_011539056.1:c.1699+1415G>T | XP_011537358.1:n.1699+1415G>T | |
| XR_945063.1:n.3288+1415G>T | ||
| XR_945064.1:n.3288+1415G>T | ||
| XR_945065.1:n.3288+1415G>T | ||
| XM_011539052.2:c.1885+1415G>T | XP_011537354.1:n.1885+1415G>T | |
| XM_017018967.1:c.2194+1415G>T | XP_016874456.1:n.2194+1415G>T | |
| XM_017018968.1:c.2158+1415G>T | XP_016874457.1:n.2158+1415G>T | |
| XM_017018969.1:c.2128+1415G>T | XP_016874458.1:n.2128+1415G>T | |
| XM_017018970.2:c.2008+1415G>T | XP_016874459.1:n.2008+1415G>T | |
| XM_017018971.2:c.2276G>T | XP_016874460.1:p.Ter759Leu | |
| XM_017018972.1:c.2224+1415G>T | XP_016874461.1:n.2224+1415G>T | |
| XM_017018973.1:c.1699+1415G>T | XP_016874462.1:n.1699+1415G>T | |
| XR_001748619.2:n.3224+1415G>T | ||
| XR_001748620.1:n.3137+1415G>T | ||
| NM_182530.3:c.2224+1415G>T MANE Select | NP_872336.2:n.2224+1415G>T |