gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002509 (NFE)
Exomes Max Group AF
0.00003384 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42408718A>G , CM000677.2:g.42408718A>G | GRCh38 |
| NC_000015.9:g.42700916A>G , CM000677.1:g.42700916A>G | GRCh37 |
| NC_000015.8:g.40488208A>G | NCBI36 |
| NG_008660.1:g.65616A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.-81-585A>G | ENSP00000336840.4:n.-81-585A>G | |
| ENST00000349748.8:c.1639-585A>G | ENSP00000183936.4:n.1639-585A>G | |
| ENST00000357568.8:c.1896+394A>G | ENSP00000350181.3:n.1896+394A>G | |
| ENST00000397163.8:c.1914+394A>G MANE Select | ENSP00000380349.3:n.1914+394A>G | |
| ENST00000397204.9:c.-81-585A>G | ENSP00000380387.4:n.-81-585A>G | |
| ENST00000466369.5:n.2405+394A>G | ||
| ENST00000495723.1:n.2785+394A>G | ||
| ENST00000549793.5:n.2127+394A>G | ||
| ENST00000565173.2:n.682A>G | ||
| ENST00000569136.6:c.-82+394A>G | ENSP00000455254.1:n.-82+394A>G | |
| ENST00000638141.2:n.1654-585A>G | ||
| ENST00000673646.1:c.478+394A>G | ENSP00000501007.1:n.478+394A>G | |
| ENST00000673692.1:c.-3-1069A>G | ENSP00000501138.1:n.-3-1069A>G | |
| ENST00000673705.1:c.310-585A>G | ENSP00000501021.1:n.310-585A>G | |
| ENST00000673743.1:c.-179+578A>G | ENSP00000500989.1:n.-179+578A>G | |
| ENST00000673750.1:c.-82+394A>G | ENSP00000501173.1:n.-82+394A>G | |
| ENST00000673771.1:c.-82+394A>G | ENSP00000501023.1:n.-82+394A>G | |
| ENST00000673839.1:c.-226+394A>G | ENSP00000501188.1:n.-226+394A>G | |
| ENST00000673851.1:c.-82+394A>G | ENSP00000501142.1:n.-82+394A>G | |
| ENST00000673854.1:n.4752A>G | ||
| ENST00000673886.1:c.-82+394A>G | ENSP00000501155.1:n.-82+394A>G | |
| ENST00000673890.1:c.-82+394A>G | ENSP00000501293.1:n.-82+394A>G | |
| ENST00000673928.1:c.-82+578A>G | ENSP00000501099.1:n.-82+578A>G | |
| ENST00000673936.1:c.-82+394A>G | ENSP00000501189.1:n.-82+394A>G | |
| ENST00000673939.1:c.-81-585A>G | ENSP00000501129.1:n.-81-585A>G | |
| ENST00000673978.1:c.1A>G | ENSP00000500976.1:p.Met1Val | |
| ENST00000673987.1:c.-82+394A>G | ENSP00000501231.1:n.-82+394A>G | |
| ENST00000674011.1:c.-82+394A>G | ENSP00000501171.1:n.-82+394A>G | |
| ENST00000674012.1:n.583A>G | ||
| ENST00000674018.1:c.-82+394A>G | ENSP00000501271.1:n.-82+394A>G | |
| ENST00000674041.1:c.-81-585A>G | ENSP00000500956.1:n.-81-585A>G | |
| ENST00000674052.1:c.138+394A>G | ENSP00000501057.1:n.138+394A>G | |
| ENST00000674064.1:n.541A>G | ||
| ENST00000674093.1:c.-81-585A>G | ENSP00000501303.1:n.-81-585A>G | |
| ENST00000674119.1:c.-81-585A>G | ENSP00000501217.1:n.-81-585A>G | |
| ENST00000674135.1:c.96+281A>G | ENSP00000501178.1:n.96+281A>G | |
| ENST00000674139.1:c.-82+394A>G | ENSP00000501054.1:n.-82+394A>G | |
| ENST00000674140.1:n.1459A>G | ||
| ENST00000674146.1:c.-82+394A>G | ENSP00000501175.1:n.-82+394A>G | |
| ENST00000674149.1:c.-82+394A>G | ENSP00000501112.1:n.-82+394A>G | |
| ENST00000318023.11:c.1770+394A>G | ENSP00000326281.8:n.1770+394A>G | |
| ENST00000337571.8:c.-81-585A>G | ENSP00000336840.4:n.-81-585A>G | |
| ENST00000349748.7:c.1639-585A>G | ENSP00000183936.4:n.1639-585A>G | |
| ENST00000356316.7:c.-90-576A>G | ENSP00000348667.4:n.-90-576A>G | |
| ENST00000357568.7:c.1896+394A>G | ENSP00000350181.3:n.1896+394A>G | |
| ENST00000397163.7:c.1914+394A>G | ENSP00000380349.3:n.1914+394A>G | |
| ENST00000397200.8:c.378+394A>G | ENSP00000380384.4:n.378+394A>G | |
| ENST00000397204.8:c.-81-585A>G | ENSP00000380387.4:n.-81-585A>G | |
| ENST00000466222.6:n.253A>G | ||
| ENST00000561817.5:c.-81-585A>G | ENSP00000456575.1:n.-81-585A>G | |
| ENST00000564503.5:c.11+394A>G | ||
| ENST00000565274.5:c.126+394A>G | ENSP00000457759.1:n.126+394A>G | |
| ENST00000565559.5:c.96+281A>G | ENSP00000457878.1:n.96+281A>G | |
| ENST00000567071.5:c.373+394A>G | ||
| ENST00000569136.5:c.-82+394A>G | ENSP00000455254.1:n.-82+394A>G | |
| ENST00000569827.5:c.247-585A>G | ENSP00000454379.1:n.247-585A>G | |
| NM_000070.2:c.1914+394A>G | NP_000061.1:n.1914+394A>G | |
| NM_024344.1:c.1896+394A>G | NP_077320.1:n.1896+394A>G | |
| NM_173087.1:c.1639-585A>G | NP_775110.1:n.1639-585A>G | |
| NM_173088.1:c.378+394A>G | NP_775111.1:n.378+394A>G | |
| NM_173089.1:c.-81-585A>G | NP_775112.1:n.-81-585A>G | |
| NM_173090.1:c.-81-585A>G | NP_775113.1:n.-81-585A>G | |
| NM_000070.3:c.1914+394A>G MANE Select | NP_000061.1:n.1914+394A>G | |
| NM_024344.2:c.1896+394A>G | NP_077320.1:n.1896+394A>G | |
| NM_173087.2:c.1639-585A>G | NP_775110.1:n.1639-585A>G | |
| NM_173088.2:c.378+394A>G | NP_775111.1:n.378+394A>G | |
| NM_173089.2:c.-81-585A>G | NP_775112.1:n.-81-585A>G | |
| NM_173090.2:c.-81-585A>G | NP_775113.1:n.-81-585A>G |