gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0030096 (NFE)
Genomes Max Group AF
0.00296846 (NFE)
Exomes Max Group AF
0.00299299 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1061893G>C , CM000681.2:g.1061893G>C | GRCh38 |
| NC_000019.9:g.1061892G>C , CM000681.1:g.1061892G>C | GRCh37 |
| NC_000019.8:g.1012892G>C | NCBI36 |
| NG_046909.1:g.26791G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263094.11:c.5570+5G>C MANE Select | ENSP00000263094.6:n.5570+5G>C | |
| ENST00000433129.6:n.5870+5G>C | ||
| ENST00000435683.7:c.3284+5G>C | ENSP00000465322.2:n.3284+5G>C | |
| ENST00000673773.1:n.2561+5G>C | ||
| ENST00000263094.10:c.5570+5G>C | ENSP00000263094.6:n.5570+5G>C | |
| ENST00000433129.5:c.5570+5G>C | ENSP00000414062.1:n.5570+5G>C | |
| ENST00000435683.6:c.5156+5G>C | ENSP00000465322.1:n.5156+5G>C | |
| ENST00000525073.6:c.903+5G>C | ||
| NM_019112.3:c.5570+5G>C | NP_061985.2:n.5570+5G>C | |
| XM_006722616.1:c.5516+5G>C | XP_006722679.1:n.5516+5G>C | |
| XM_006722618.2:c.3227+5G>C | XP_006722681.1:n.3227+5G>C | |
| XM_011527628.1:c.5570+5G>C | XP_011525930.1:n.5570+5G>C | |
| XM_011527629.1:c.5543+5G>C | XP_011525931.1:n.5543+5G>C | |
| XM_011527630.1:c.5441+5G>C | XP_011525932.1:n.5441+5G>C | |
| XM_011527631.1:c.5123+5G>C | XP_011525933.1:n.5123+5G>C | |
| XM_011527632.1:c.5114+5G>C | XP_011525934.1:n.5114+5G>C | |
| XM_011527636.1:c.3227+5G>C | XP_011525938.1:n.3227+5G>C | |
| XR_936148.1:n.5788+5G>C | ||
| XR_936149.1:n.5676+5G>C | ||
| XR_936150.1:n.5519+5G>C | ||
| XM_024451315.1:c.5585+5G>C | XP_024307083.1:n.5585+5G>C | |
| XM_024451316.1:c.5585+5G>C | XP_024307084.1:n.5585+5G>C | |
| XM_024451317.1:c.5558+5G>C | XP_024307085.1:n.5558+5G>C | |
| XM_024451318.1:c.5531+5G>C | XP_024307086.1:n.5531+5G>C | |
| XM_024451319.1:c.5456+5G>C | XP_024307087.1:n.5456+5G>C | |
| XM_024451320.1:c.5330+5G>C | XP_024307088.1:n.5330+5G>C | |
| XM_024451321.1:c.5138+5G>C | XP_024307089.1:n.5138+5G>C | |
| XM_024451322.1:c.5129+5G>C | XP_024307090.1:n.5129+5G>C | |
| XM_024451323.1:c.5585+5G>C | XP_024307091.1:n.5585+5G>C | |
| XM_024451324.1:c.3242+5G>C | XP_024307092.1:n.3242+5G>C | |
| XM_024451325.1:c.3242+5G>C | XP_024307093.1:n.3242+5G>C | |
| XR_001753585.1:n.5519+5G>C | ||
| XR_001753586.1:n.5610+5G>C | ||
| XR_002958241.1:n.5534+5G>C | ||
| XR_002958242.1:n.5252+5G>C | ||
| NM_019112.4:c.5570+5G>C MANE Select | NP_061985.2:n.5570+5G>C |