gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40248394 (NFE)
Genomes Max Group AF
0.40248394 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.20119786G>A , CM000679.2:g.20119786G>A | GRCh38 |
| NC_000017.10:g.20023099G>A , CM000679.1:g.20023099G>A | GRCh37 |
| NC_000017.9:g.19963691G>A | NCBI36 |
| NG_029768.1:g.115451G>A | |
| NG_029768.2:g.115451G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395527.9:c.283+9224G>A MANE Select | ENSP00000378898.4:n.283+9224G>A | |
| ENST00000467722.3:c.283+9224G>A | ENSP00000463130.2:n.283+9224G>A | |
| ENST00000578321.2:c.283+9224G>A | ENSP00000462266.2:n.283+9224G>A | |
| ENST00000580934.2:c.283+9224G>A | ENSP00000461944.2:n.283+9224G>A | |
| ENST00000581973.7:c.283+9224G>A | ENSP00000464341.3:n.283+9224G>A | |
| ENST00000583463.6:c.283+9224G>A | ENSP00000464489.2:n.283+9224G>A | |
| ENST00000583482.7:c.283+9224G>A | ENSP00000463006.3:n.283+9224G>A | |
| ENST00000583528.6:c.284-5114G>A | ENSP00000461918.2:n.284-5114G>A | |
| ENST00000676570.1:c.283+9224G>A | ENSP00000503507.1:n.283+9224G>A | |
| ENST00000677148.1:c.283+9224G>A | ENSP00000503849.1:n.283+9224G>A | |
| ENST00000677914.1:c.283+9224G>A | ENSP00000503971.1:n.283+9224G>A | |
| ENST00000678019.1:c.283+9224G>A | ENSP00000503509.1:n.283+9224G>A | |
| ENST00000678315.1:c.283+9224G>A | ENSP00000504304.1:n.283+9224G>A | |
| ENST00000678321.1:c.283+9224G>A | ENSP00000503822.1:n.283+9224G>A | |
| ENST00000678651.1:n.556-84547G>A | ||
| ENST00000679048.1:c.283+9224G>A | ENSP00000503774.1:n.283+9224G>A | |
| ENST00000679049.1:c.283+9224G>A | ENSP00000503499.1:n.283+9224G>A | |
| ENST00000679058.1:c.283+9224G>A | ENSP00000502924.1:n.283+9224G>A | |
| ENST00000679255.1:c.283+9224G>A | ENSP00000504211.1:n.283+9224G>A | |
| ENST00000680019.1:c.283+9224G>A | ENSP00000506699.1:n.283+9224G>A | |
| ENST00000680124.1:c.284-5114G>A | ENSP00000506187.1:n.284-5114G>A | |
| ENST00000680374.1:c.283+9224G>A | ENSP00000505715.1:n.283+9224G>A | |
| ENST00000680572.1:c.283+9224G>A | ENSP00000505383.1:n.283+9224G>A | |
| ENST00000680604.1:c.283+9224G>A | ENSP00000506044.1:n.283+9224G>A | |
| ENST00000680740.1:c.283+9224G>A | ENSP00000505625.1:n.283+9224G>A | |
| ENST00000680830.1:c.284-5114G>A | ENSP00000505376.1:n.284-5114G>A | |
| ENST00000681116.1:c.283+9224G>A | ENSP00000505864.1:n.283+9224G>A | |
| ENST00000681202.1:c.283+9224G>A | ENSP00000506319.1:n.283+9224G>A | |
| ENST00000681564.1:c.283+9224G>A | ENSP00000506710.1:n.283+9224G>A | |
| ENST00000681593.1:c.283+9224G>A | ENSP00000504996.1:n.283+9224G>A | |
| ENST00000681875.1:c.283+9224G>A | ENSP00000505421.1:n.283+9224G>A | |
| ENST00000261503.9:c.283+9224G>A | ENSP00000261503.5:n.283+9224G>A | |
| ENST00000395527.8:c.283+9224G>A | ENSP00000378898.4:n.283+9224G>A | |
| ENST00000395529.7:c.283+9224G>A | ENSP00000378900.3:n.283+9224G>A | |
| ENST00000413167.2:n.441+9224G>A | ||
| ENST00000472876.5:n.82-107627G>A | ||
| ENST00000581973.6:c.283+9224G>A | ENSP00000464341.2:n.283+9224G>A | |
| ENST00000583463.5:c.283+9224G>A | ENSP00000464489.1:n.283+9224G>A | |
| ENST00000583482.6:c.283+9224G>A | ENSP00000463006.2:n.283+9224G>A | |
| NM_001033553.2:c.283+9224G>A | NP_001028725.1:n.283+9224G>A | |
| NM_001243439.1:c.283+9224G>A | NP_001230368.1:n.283+9224G>A | |
| NM_152904.4:c.283+9224G>A | NP_690868.3:n.283+9224G>A | |
| XM_011524073.1:c.283+9224G>A | XP_011522375.1:n.283+9224G>A | |
| XM_011524075.1:c.283+9224G>A | XP_011522377.1:n.283+9224G>A | |
| XM_011524076.1:c.283+9224G>A | XP_011522378.1:n.283+9224G>A | |
| XM_011524075.2:c.283+9224G>A | XP_011522377.1:n.283+9224G>A | |
| XM_017025317.1:c.283+9224G>A | XP_016880806.1:n.283+9224G>A | |
| XM_017025318.1:c.283+9224G>A | XP_016880807.1:n.283+9224G>A | |
| XM_017025319.1:c.283+9224G>A | XP_016880808.1:n.283+9224G>A | |
| XM_017025320.1:c.283+9224G>A | XP_016880809.1:n.283+9224G>A | |
| XM_017025322.1:c.283+9224G>A | XP_016880811.1:n.283+9224G>A | |
| XM_017025323.1:c.283+9224G>A | XP_016880812.1:n.283+9224G>A | |
| XM_017025324.1:c.283+9224G>A | XP_016880813.1:n.283+9224G>A | |
| XM_017025325.1:c.283+9224G>A | XP_016880814.1:n.283+9224G>A | |
| NM_001243439.2:c.283+9224G>A MANE Select | NP_001230368.1:n.283+9224G>A | |
| NM_001386078.1:c.284-5114G>A | NP_001373007.1:n.284-5114G>A | |
| NM_001386079.1:c.283+9224G>A | NP_001373008.1:n.283+9224G>A | |
| NM_001386080.1:c.-487-5114G>A | NP_001373009.1:n.-487-5114G>A | |
| NM_001386081.1:c.283+9224G>A | NP_001373010.1:n.283+9224G>A | |
| NM_001386082.1:c.283+9224G>A | NP_001373011.1:n.283+9224G>A | |
| NM_001386083.1:c.307+9224G>A | NP_001373012.1:n.307+9224G>A | |
| NM_001386084.1:c.307+9224G>A | NP_001373013.1:n.307+9224G>A | |
| NM_001386085.1:c.283+9224G>A | NP_001373014.1:n.283+9224G>A | |
| NM_001033553.3:c.283+9224G>A | NP_001028725.1:n.283+9224G>A | |
| NM_001386078.2:c.284-5114G>A | NP_001373007.1:n.284-5114G>A | |
| NM_001386083.2:c.283+9224G>A | NP_001373012.2:n.283+9224G>A |