gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000879 (SAS)
Exomes Max Group AF
0.00000928 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43896633C>A , CM000664.2:g.43896633C>A | GRCh38 |
| NC_000002.11:g.44123772C>A , CM000664.1:g.44123772C>A | GRCh37 |
| NC_000002.10:g.43977276C>A | NCBI36 |
| NG_008247.1:g.104373G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.331+1G>T | ||
| ENST00000472420.6:n.980G>T | ||
| ENST00000483489.2:n.279G>T | ||
| ENST00000681993.1:n.1452+1G>T | ||
| ENST00000682154.1:n.69G>T | ||
| ENST00000682303.1:c.*3612-2004G>T | ENSP00000508325.1:n.*3612-2004G>T | |
| ENST00000682308.1:c.3826-2004G>T | ENSP00000507056.1:n.3826-2004G>T | |
| ENST00000682434.1:n.1452G>T | ||
| ENST00000682480.1:c.3918+1G>T | ENSP00000508344.1:n.3918+1G>T | |
| ENST00000682546.1:c.3897+1G>T | ENSP00000508188.1:n.3897+1G>T | |
| ENST00000682585.1:c.3900+1G>T | ENSP00000506885.1:n.3900+1G>T | |
| ENST00000682595.1:n.4485G>T | ||
| ENST00000682607.1:c.2318+1G>T | ||
| ENST00000682612.1:c.752+1G>T | ||
| ENST00000682779.1:c.3891+1G>T | ENSP00000507947.1:n.3891+1G>T | |
| ENST00000682885.1:c.3855+1G>T | ENSP00000508036.1:n.3855+1G>T | |
| ENST00000682933.1:n.3974+1G>T | ||
| ENST00000683002.1:c.752+1G>T | ||
| ENST00000683072.1:n.4484+1G>T | ||
| ENST00000683080.1:n.1519+1G>T | ||
| ENST00000683096.1:n.2127G>T | ||
| ENST00000683125.1:c.4008+1G>T | ENSP00000507939.1:n.4008+1G>T | |
| ENST00000683213.1:c.3903+1G>T | ENSP00000507751.1:n.3903+1G>T | |
| ENST00000683220.1:c.3930+1G>T | ENSP00000507151.1:n.3930+1G>T | |
| ENST00000683329.1:n.4703+1G>T | ||
| ENST00000683346.1:c.*3775+1G>T | ENSP00000507458.1:n.*3775+1G>T | |
| ENST00000683409.1:n.2433-2004G>T | ||
| ENST00000683459.1:n.4487+1G>T | ||
| ENST00000683590.1:c.3574-2004G>T | ENSP00000506820.1:n.3574-2004G>T | |
| ENST00000683623.1:c.3807+1G>T | ENSP00000507702.1:n.3807+1G>T | |
| ENST00000683796.1:c.*3698-2004G>T | ENSP00000508221.1:n.*3698-2004G>T | |
| ENST00000683833.1:c.3817-2004G>T | ENSP00000506852.1:n.3817-2004G>T | |
| ENST00000683994.1:c.*13+1G>T | ENSP00000507181.1:n.*13+1G>T | |
| ENST00000684290.1:c.*1362-2004G>T | ENSP00000507243.1:n.*1362-2004G>T | |
| ENST00000684306.1:c.*3813+1G>T | ENSP00000508384.1:n.*3813+1G>T | |
| ENST00000684341.1:n.3921G>T | ||
| ENST00000684383.1:c.*3538+1G>T | ENSP00000506863.1:n.*3538+1G>T | |
| ENST00000684418.1:n.5081+1G>T | ||
| ENST00000684433.1:n.284+1G>T | ||
| ENST00000684454.1:n.5761G>T | ||
| ENST00000684619.1:c.*3772+1G>T | ENSP00000508088.1:n.*3772+1G>T | |
| ENST00000684743.1:n.6645+1G>T | ||
| ENST00000260665.12:c.3900+1G>T MANE Select | ENSP00000260665.7:n.3900+1G>T | |
| ENST00000260665.11:c.3900+1G>T | ENSP00000260665.7:n.3900+1G>T | |
| ENST00000419884.5:c.141+1G>T | ENSP00000414207.1:n.141+1G>T | |
| ENST00000463456.5:n.2943+1G>T | ||
| ENST00000472420.5:n.298G>T | ||
| ENST00000483489.1:n.375G>T | ||
| NM_133259.3:c.3900+1G>T | NP_573566.2:n.3900+1G>T | |
| XM_006711915.2:c.3822+1G>T | XP_006711978.1:n.3822+1G>T | |
| XM_011532473.1:c.3826-2004G>T | XP_011530775.1:n.3826-2004G>T | |
| XM_011532474.1:c.3900+1G>T | XP_011530776.1:n.3900+1G>T | |
| XM_017003117.1:c.3748-2004G>T | XP_016858606.1:n.3748-2004G>T | |
| XR_002958896.1:n.3942+1G>T | ||
| NM_133259.4:c.3900+1G>T MANE Select | NP_573566.2:n.3900+1G>T |