gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23644189 (MID)
Genomes Max Group AF
0.19083058 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.153772717G>A , CM000667.2:g.153772717G>A | GRCh38 |
| NC_000005.9:g.153152277G>A , CM000667.1:g.153152277G>A | GRCh37 |
| NC_000005.8:g.153132470G>A | NCBI36 |
| NG_047078.1:g.288022G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340592.10:c.2270+2302G>A | ENSP00000339343.5:n.2270+2302G>A | |
| ENST00000706733.1:c.2270+2302G>A | ENSP00000516520.1:n.2270+2302G>A | |
| ENST00000706734.1:c.2297+2302G>A | ENSP00000516521.1:n.2297+2302G>A | |
| ENST00000285900.10:c.2270+2302G>A MANE Select | ENSP00000285900.4:n.2270+2302G>A | |
| ENST00000285900.9:c.2270+2302G>A | ENSP00000285900.4:n.2270+2302G>A | |
| ENST00000340592.9:c.2270+2302G>A | ENSP00000339343.5:n.2270+2302G>A | |
| ENST00000448073.8:c.2300+2302G>A | ENSP00000415569.2:n.2300+2302G>A | |
| ENST00000518142.5:c.2030+2302G>A | ENSP00000427920.1:n.2030+2302G>A | |
| ENST00000518783.1:c.2300+2302G>A | ENSP00000428994.1:n.2300+2302G>A | |
| ENST00000521843.6:c.2063+2302G>A | ENSP00000427864.2:n.2063+2302G>A | |
| NM_000827.3:c.2270+2302G>A | NP_000818.2:n.2270+2302G>A | |
| NM_001114183.1:c.2270+2302G>A | NP_001107655.1:n.2270+2302G>A | |
| NM_001258019.1:c.2030+2302G>A | NP_001244948.1:n.2030+2302G>A | |
| NM_001258020.1:c.1985+2302G>A | NP_001244949.1:n.1985+2302G>A | |
| NM_001258021.1:c.2300+2302G>A | NP_001244950.1:n.2300+2302G>A | |
| NM_001258022.1:c.2300+2302G>A | NP_001244951.1:n.2300+2302G>A | |
| NM_001258023.1:c.2063+2302G>A | NP_001244952.1:n.2063+2302G>A | |
| NR_047578.1:n.2497+2302G>A | ||
| XM_011537635.1:c.2210+2302G>A | XP_011535937.1:n.2210+2302G>A | |
| XR_427776.2:n.2540+2302G>A | ||
| NM_001364165.1:c.2102+2302G>A | NP_001351094.1:n.2102+2302G>A | |
| NM_001364166.1:c.2297+2302G>A | NP_001351095.1:n.2297+2302G>A | |
| NM_001364167.1:c.2063+2302G>A | NP_001351096.1:n.2063+2302G>A | |
| NR_157093.1:n.2489+2302G>A | ||
| XM_017009392.1:c.2300+2302G>A | XP_016864881.1:n.2300+2302G>A | |
| NM_000827.4:c.2270+2302G>A MANE Select | NP_000818.2:n.2270+2302G>A | |
| NM_001114183.2:c.2270+2302G>A | NP_001107655.1:n.2270+2302G>A | |
| NM_001258019.2:c.2030+2302G>A | NP_001244948.1:n.2030+2302G>A | |
| NM_001258020.2:c.1985+2302G>A | NP_001244949.1:n.1985+2302G>A | |
| NM_001258021.2:c.2300+2302G>A | NP_001244950.1:n.2300+2302G>A | |
| NM_001258022.2:c.2300+2302G>A | NP_001244951.1:n.2300+2302G>A | |
| NM_001364165.2:c.2102+2302G>A | NP_001351094.1:n.2102+2302G>A | |
| NM_001364166.2:c.2297+2302G>A | NP_001351095.1:n.2297+2302G>A | |
| NM_001364167.2:c.2063+2302G>A | NP_001351096.1:n.2063+2302G>A | |
| NR_047578.2:n.2351+2302G>A | ||
| NR_157093.2:n.2489+2302G>A |