gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67454211 (AFR)
Genomes Max Group AF
0.67454211 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.81304249T>G , CM000677.2:g.81304249T>G | GRCh38 |
| NC_000015.9:g.81596590T>G , CM000677.1:g.81596590T>G | GRCh37 |
| NC_000015.8:g.79383645T>G | NCBI36 |
| NG_029933.1:g.112372T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302987.10:c.3561+599T>G | ENSP00000302935.5:n.3561+599T>G | |
| ENST00000706926.1:c.3420+599T>G | ENSP00000516648.1:n.3420+599T>G | |
| ENST00000302987.9:c.3561+599T>G | ENSP00000302935.5:n.3561+599T>G | |
| ENST00000683961.1:c.3420+599T>G MANE Select | ENSP00000508085.1:n.3420+599T>G | |
| ENST00000302987.8:c.3420+599T>G | ENSP00000302935.4:n.3420+599T>G | |
| ENST00000360547.9:c.*2597+599T>G | ENSP00000456972.1:n.*2597+599T>G | |
| ENST00000394652.6:c.1317+599T>G | ENSP00000378147.2:n.1317+599T>G | |
| ENST00000394660.6:c.3420+599T>G | ENSP00000378155.2:n.3420+599T>G | |
| ENST00000558332.3:c.1331+599T>G | ||
| ENST00000558857.5:c.1534+599T>G | ENSP00000453131.1:n.1534+599T>G | |
| ENST00000559342.1:n.264+599T>G | ||
| ENST00000559388.4:c.1317+599T>G | ENSP00000458125.2:n.1317+599T>G | |
| ENST00000560115.5:c.3390+599T>G | ||
| NM_001172128.1:c.3420+599T>G | NP_001165599.1:n.3420+599T>G | |
| NM_004513.5:c.1317+599T>G | NP_004504.3:n.1317+599T>G | |
| NM_172217.3:c.3420+599T>G | NP_757366.2:n.3420+599T>G | |
| XM_005254342.2:c.3561+599T>G | XP_005254399.1:n.3561+599T>G | |
| XM_005254346.3:c.1317+599T>G | XP_005254403.1:n.1317+599T>G | |
| XM_011521518.1:c.3282+599T>G | XP_011519820.1:n.3282+599T>G | |
| XM_011521519.1:c.3420+599T>G | XP_011519821.1:n.3420+599T>G | |
| XM_011521520.1:c.3420+599T>G | XP_011519822.1:n.3420+599T>G | |
| XR_931805.1:n.3597+599T>G | ||
| NM_001352684.1:c.1590+599T>G | NP_001339613.1:n.1590+599T>G | |
| NM_001352685.1:c.2910+599T>G | NP_001339614.1:n.2910+599T>G | |
| NM_001352686.1:c.3573+599T>G | NP_001339615.1:n.3573+599T>G | |
| NM_172217.4:c.3420+599T>G | NP_757366.2:n.3420+599T>G | |
| NR_148035.1:n.3632+599T>G | ||
| NM_001172128.2:c.3420+599T>G | NP_001165599.1:n.3420+599T>G | |
| NM_001352684.2:c.1590+599T>G | NP_001339613.1:n.1590+599T>G | |
| NM_001352685.2:c.2910+599T>G | NP_001339614.1:n.2910+599T>G | |
| NM_004513.6:c.1317+599T>G | NP_004504.3:n.1317+599T>G | |
| NM_172217.5:c.3420+599T>G MANE Select | NP_757366.2:n.3420+599T>G | |
| NR_148035.2:n.3631+599T>G | ||
| NM_001352686.2:c.3573+599T>G | NP_001339615.1:n.3573+599T>G |