gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002555 (NFE)
Exomes Max Group AF
0.00002625 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36102854A>G , CM000681.2:g.36102854A>G | GRCh38 |
| NC_000019.9:g.36593756A>G , CM000681.1:g.36593756A>G | GRCh37 |
| NC_000019.8:g.41285596A>G | NCBI36 |
| NG_028101.1:g.52974A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3320+3A>G | ENSP00000270301.6:n.3320+3A>G | |
| ENST00000401500.7:c.3335+3A>G MANE Select | ENSP00000384792.1:n.3335+3A>G | |
| ENST00000587391.6:c.*3195+3A>G | ENSP00000465525.1:n.*3195+3A>G | |
| ENST00000679357.1:c.1415+3A>G | ||
| ENST00000679598.1:c.100+3A>G | ||
| ENST00000679682.1:c.3320+3A>G | ENSP00000506226.1:n.3320+3A>G | |
| ENST00000679714.1:c.3329+3A>G | ENSP00000506627.1:n.3329+3A>G | |
| ENST00000679757.1:c.2984+3A>G | ENSP00000505158.1:n.2984+3A>G | |
| ENST00000679858.1:c.*2717+3A>G | ENSP00000505655.1:n.*2717+3A>G | |
| ENST00000680211.1:c.-65+3A>G | ENSP00000506102.1:n.-65+3A>G | |
| ENST00000680280.1:n.622+3A>G | ||
| ENST00000680349.1:n.1903+3A>G | ||
| ENST00000680403.1:c.3320+3A>G | ENSP00000505677.1:n.3320+3A>G | |
| ENST00000680564.1:c.3086+3A>G | ENSP00000505582.1:n.3086+3A>G | |
| ENST00000680590.1:c.*1715+3A>G | ENSP00000505350.1:n.*1715+3A>G | |
| ENST00000680597.1:c.100+3A>G | ||
| ENST00000680739.1:c.350+3A>G | ||
| ENST00000680773.1:n.1836+3A>G | ||
| ENST00000680806.1:c.*2638+3A>G | ENSP00000506418.1:n.*2638+3A>G | |
| ENST00000680997.1:n.1267+3A>G | ||
| ENST00000681608.1:n.871A>G | ||
| ENST00000681625.1:c.*667+3A>G | ENSP00000505555.1:n.*667+3A>G | |
| ENST00000681648.1:n.634+3A>G | ||
| ENST00000270301.11:c.3320+3A>G | ENSP00000270301.6:n.3320+3A>G | |
| ENST00000401500.6:c.3335+3A>G | ENSP00000384792.1:n.3335+3A>G | |
| ENST00000587391.5:c.*3195+3A>G | ENSP00000465525.1:n.*3195+3A>G | |
| NM_001083961.1:c.3335+3A>G | NP_001077430.1:n.3335+3A>G | |
| NM_173636.4:c.3320+3A>G | NP_775907.4:n.3320+3A>G | |
| XM_005258809.2:c.3224+3A>G | XP_005258866.1:n.3224+3A>G | |
| XM_011526837.1:c.3320+3A>G | XP_011525139.1:n.3320+3A>G | |
| XM_011526838.1:c.3086+3A>G | XP_011525140.1:n.3086+3A>G | |
| XM_011526839.1:c.2984+3A>G | XP_011525141.1:n.2984+3A>G | |
| XM_011526840.1:c.2327+3A>G | XP_011525142.1:n.2327+3A>G | |
| XM_011526841.1:c.1913+3A>G | XP_011525143.1:n.1913+3A>G | |
| XM_011526842.1:c.1766+3A>G | XP_011525144.1:n.1766+3A>G | |
| XM_011526843.1:c.1082+3A>G | XP_011525145.1:n.1082+3A>G | |
| XM_011526844.1:c.1082+3A>G | XP_011525146.1:n.1082+3A>G | |
| XM_011526840.2:c.2327+3A>G | XP_011525142.1:n.2327+3A>G | |
| XM_011526841.2:c.1913+3A>G | XP_011525143.1:n.1913+3A>G | |
| XM_011526844.2:c.1082+3A>G | XP_011525146.1:n.1082+3A>G | |
| XM_017026665.1:c.3335+3A>G | XP_016882154.1:n.3335+3A>G | |
| NM_001083961.2:c.3335+3A>G MANE Select | NP_001077430.1:n.3335+3A>G | |
| NM_173636.5:c.3320+3A>G | NP_775907.4:n.3320+3A>G |