gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19493487 (EAS)
Genomes Max Group AF
0.03473268 (EAS)
Exomes Max Group AF
0.21925536 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13297932G>A , CM000686.2:g.13297932G>A | GRCh38 |
| NC_000024.9:g.15409812G>A , CM000686.1:g.15409812G>A | GRCh37 |
| NC_000024.8:g.13919206G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382896.9:c.3803-84C>T | ENSP00000372352.5:n.3803-84C>T | |
| ENST00000537580.6:c.3713-84C>T | ENSP00000439922.2:n.3713-84C>T | |
| ENST00000538878.6:c.3626-84C>T | ENSP00000445274.2:n.3626-84C>T | |
| ENST00000540140.6:c.3704-84C>T | ENSP00000441943.2:n.3704-84C>T | |
| ENST00000545955.6:c.3869-84C>T MANE Select | ENSP00000442047.2:n.3869-84C>T | |
| ENST00000612274.5:c.3638-84C>T | ENSP00000485013.1:n.3638-84C>T | |
| ENST00000617789.5:c.3734-84C>T | ENSP00000483735.1:n.3734-84C>T | |
| ENST00000618474.5:c.3329-84C>T | ENSP00000484698.1:n.3329-84C>T | |
| ENST00000682112.1:c.*1037-84C>T | ENSP00000508171.1:n.*1037-84C>T | |
| ENST00000682216.1:c.3578-84C>T | ENSP00000507656.1:n.3578-84C>T | |
| ENST00000682761.1:c.1602-84C>T | ||
| ENST00000682913.1:c.3713-84C>T | ENSP00000507736.1:n.3713-84C>T | |
| ENST00000684226.1:c.2705-84C>T | ENSP00000507919.1:n.2705-84C>T | |
| ENST00000331397.8:c.3578-84C>T | ENSP00000328939.4:n.3578-84C>T | |
| ENST00000362096.8:c.3578-84C>T | ENSP00000355420.4:n.3578-84C>T | |
| ENST00000382896.8:c.3713-84C>T | ENSP00000372352.4:n.3713-84C>T | |
| ENST00000537580.5:c.3713-84C>T | ENSP00000439922.2:n.3713-84C>T | |
| ENST00000538878.5:c.3626-84C>T | ENSP00000445274.2:n.3626-84C>T | |
| ENST00000540140.5:c.3704-84C>T | ENSP00000441943.2:n.3704-84C>T | |
| ENST00000545955.5:c.3869-84C>T | ENSP00000442047.2:n.3869-84C>T | |
| ENST00000612274.4:c.3638-84C>T | ENSP00000485013.1:n.3638-84C>T | |
| ENST00000617789.4:c.3734-84C>T | ENSP00000483735.1:n.3734-84C>T | |
| ENST00000618474.4:c.3329-84C>T | ENSP00000484698.1:n.3329-84C>T | |
| ENST00000624098.3:c.3341-84C>T | ENSP00000485539.2:n.3341-84C>T | |
| NM_001258249.1:c.3869-84C>T | NP_001245178.1:n.3869-84C>T | |
| NM_001258250.1:c.3158-84C>T | NP_001245179.1:n.3158-84C>T | |
| NM_001258251.1:c.3626-84C>T | NP_001245180.1:n.3626-84C>T | |
| NM_001258252.1:c.3713-84C>T | NP_001245181.1:n.3713-84C>T | |
| NM_001258253.1:c.3626-84C>T | NP_001245182.1:n.3626-84C>T | |
| NM_001258254.1:c.3341-84C>T | NP_001245183.1:n.3341-84C>T | |
| NM_001258255.1:c.3341-84C>T | NP_001245184.1:n.3341-84C>T | |
| NM_001258256.1:c.3713-84C>T | NP_001245185.1:n.3713-84C>T | |
| NM_001258257.1:c.3206-84C>T | NP_001245186.1:n.3206-84C>T | |
| NM_001258258.1:c.3734-84C>T | NP_001245187.1:n.3734-84C>T | |
| NM_001258259.1:c.3530-84C>T | NP_001245188.1:n.3530-84C>T | |
| NM_001258260.1:c.3668-84C>T | NP_001245189.1:n.3668-84C>T | |
| NM_001258261.1:c.3704-84C>T | NP_001245190.1:n.3704-84C>T | |
| NM_001258262.1:c.3497-84C>T | NP_001245191.1:n.3497-84C>T | |
| NM_001258263.1:c.3578-84C>T | NP_001245192.1:n.3578-84C>T | |
| NM_001258264.1:c.3665-84C>T | NP_001245193.1:n.3665-84C>T | |
| NM_001258265.1:c.3329-84C>T | NP_001245194.1:n.3329-84C>T | |
| NM_001258266.1:c.3638-84C>T | NP_001245195.1:n.3638-84C>T | |
| NM_001258267.1:c.3578-84C>T | NP_001245196.1:n.3578-84C>T | |
| NM_001258268.1:c.3341-84C>T | NP_001245197.1:n.3341-84C>T | |
| NM_001258269.1:c.3431-84C>T | NP_001245198.1:n.3431-84C>T | |
| NM_001258270.1:c.3206-84C>T | NP_001245199.1:n.3206-84C>T | |
| NM_007125.4:c.3578-84C>T | NP_009056.3:n.3578-84C>T | |
| NM_182659.1:c.3578-84C>T | NP_872600.1:n.3578-84C>T | |
| NR_047596.1:n.3810-84C>T | ||
| NR_047597.1:n.4689-84C>T | ||
| NR_047598.1:n.4887-84C>T | ||
| NR_047599.1:n.4706-84C>T | ||
| NR_047600.1:n.4507-84C>T | ||
| NR_047601.1:n.4183-84C>T | ||
| NR_047602.1:n.4548-84C>T | ||
| NR_047603.1:n.4706-84C>T | ||
| NR_047604.1:n.3676-84C>T | ||
| NR_047605.1:n.3762-84C>T | ||
| NR_047606.1:n.3946-84C>T | ||
| NR_047607.1:n.4929-84C>T | ||
| NR_047608.1:n.3965-84C>T | ||
| NR_047609.1:n.4341-84C>T | ||
| NR_047610.1:n.3878-84C>T | ||
| NR_047611.1:n.3945-84C>T | ||
| NR_047612.1:n.4101-84C>T | ||
| NR_047613.1:n.3863-84C>T | ||
| NR_047614.1:n.4082-84C>T | ||
| NR_047615.1:n.3936-84C>T | ||
| NR_047616.1:n.3862-84C>T | ||
| NR_047617.1:n.3979-84C>T | ||
| NR_047618.1:n.4684-84C>T | ||
| NR_047619.1:n.3868-84C>T | ||
| NR_047620.1:n.3945-84C>T | ||
| NR_047621.1:n.4050-84C>T | ||
| NR_047622.1:n.4002-84C>T | ||
| NR_047623.1:n.4013-84C>T | ||
| NR_047624.1:n.4803-84C>T | ||
| NR_047625.1:n.3683-84C>T | ||
| NR_047626.1:n.3810-84C>T | ||
| NR_047627.1:n.3825-84C>T | ||
| NR_047628.1:n.3858-84C>T | ||
| NR_047629.1:n.4077-84C>T | ||
| NR_047630.1:n.3735-84C>T | ||
| NR_047631.1:n.3902-84C>T | ||
| NR_047632.1:n.4359-84C>T | ||
| NR_047633.1:n.3859-84C>T | ||
| NR_047634.1:n.3809-84C>T | ||
| NR_047635.1:n.4578-84C>T | ||
| NR_047636.1:n.3948-84C>T | ||
| NR_047637.1:n.4641-84C>T | ||
| NR_047638.1:n.4649-84C>T | ||
| NR_047639.1:n.3716-84C>T | ||
| NR_047640.1:n.3794-84C>T | ||
| NR_047641.1:n.4651-84C>T | ||
| NR_047642.1:n.4583-84C>T | ||
| NR_047643.1:n.4183-84C>T | ||
| NR_047644.1:n.4776-84C>T | ||
| NR_047645.1:n.4789-84C>T | ||
| NR_047646.1:n.4456-84C>T | ||
| NR_047647.1:n.4540-84C>T | ||
| XM_011531441.1:c.3917-84C>T | XP_011529743.1:n.3917-84C>T | |
| XM_011531442.1:c.3869-84C>T | XP_011529744.1:n.3869-84C>T | |
| XM_011531443.1:c.3851-84C>T | XP_011529745.1:n.3851-84C>T | |
| XM_011531444.1:c.3803-84C>T | XP_011529746.1:n.3803-84C>T | |
| XM_011531445.1:c.3782-84C>T | XP_011529747.1:n.3782-84C>T | |
| XM_011531446.1:c.3761-84C>T | XP_011529748.1:n.3761-84C>T | |
| XM_011531447.1:c.3734-84C>T | XP_011529749.1:n.3734-84C>T | |
| XM_011531448.1:c.3716-84C>T | XP_011529750.1:n.3716-84C>T | |
| XM_011531449.1:c.3713-84C>T | XP_011529751.1:n.3713-84C>T | |
| XM_011531450.1:c.3668-84C>T | XP_011529752.1:n.3668-84C>T | |
| XM_011531451.1:c.3626-84C>T | XP_011529753.1:n.3626-84C>T | |
| XM_011531452.1:c.3578-84C>T | XP_011529754.1:n.3578-84C>T | |
| XM_011531453.1:c.3917-84C>T | XP_011529755.1:n.3917-84C>T | |
| XM_011531454.1:c.3917-84C>T | XP_011529756.1:n.3917-84C>T | |
| XM_011531455.1:c.3917-84C>T | XP_011529757.1:n.3917-84C>T | |
| XM_011531456.1:c.3917-84C>T | XP_011529758.1:n.3917-84C>T | |
| XM_011531457.1:c.3917-84C>T | XP_011529759.1:n.3917-84C>T | |
| XM_011531458.1:c.3803-84C>T | XP_011529760.1:n.3803-84C>T | |
| XM_011531459.1:c.3917-84C>T | XP_011529761.1:n.3917-84C>T | |
| XM_011531466.1:c.3851-84C>T | XP_011529768.1:n.3851-84C>T | |
| XM_011531467.1:c.3761-84C>T | XP_011529769.1:n.3761-84C>T | |
| XM_011531441.3:c.3917-84C>T | XP_011529743.1:n.3917-84C>T | |
| XM_011531442.3:c.3869-84C>T | XP_011529744.1:n.3869-84C>T | |
| XM_011531443.3:c.3851-84C>T | XP_011529745.1:n.3851-84C>T | |
| XM_011531445.3:c.3782-84C>T | XP_011529747.1:n.3782-84C>T | |
| XM_011531446.3:c.3761-84C>T | XP_011529748.1:n.3761-84C>T | |
| XM_011531447.3:c.3734-84C>T | XP_011529749.1:n.3734-84C>T | |
| XM_011531448.3:c.3716-84C>T | XP_011529750.1:n.3716-84C>T | |
| XM_011531449.3:c.3713-84C>T | XP_011529751.1:n.3713-84C>T | |
| XM_011531450.3:c.3668-84C>T | XP_011529752.1:n.3668-84C>T | |
| XM_011531451.3:c.3626-84C>T | XP_011529753.1:n.3626-84C>T | |
| XM_011531452.3:c.3578-84C>T | XP_011529754.1:n.3578-84C>T | |
| XM_011531453.3:c.3917-84C>T | XP_011529755.1:n.3917-84C>T | |
| XM_011531454.3:c.3917-84C>T | XP_011529756.1:n.3917-84C>T | |
| XM_011531455.3:c.3917-84C>T | XP_011529757.1:n.3917-84C>T | |
| XM_011531458.3:c.3803-84C>T | XP_011529760.1:n.3803-84C>T | |
| XM_011531459.3:c.3917-84C>T | XP_011529761.1:n.3917-84C>T | |
| XM_017030066.2:c.3803-84C>T | XP_016885555.1:n.3803-84C>T | |
| XM_017030067.2:c.3713-84C>T | XP_016885556.1:n.3713-84C>T | |
| XM_017030068.2:c.3578-84C>T | XP_016885557.1:n.3578-84C>T | |
| XM_017030070.2:c.3729-84C>T | XP_016885559.1:n.3729-84C>T | |
| XM_017030074.2:c.3851-84C>T | XP_016885563.1:n.3851-84C>T | |
| XR_001756008.2:n.4025-84C>T | ||
| NM_001258249.2:c.3869-84C>T MANE Select | NP_001245178.1:n.3869-84C>T | |
| NM_001400170.1:c.3713-84C>T | NP_001387099.1:n.3713-84C>T | |
| NM_001400171.1:c.3668-84C>T | NP_001387100.1:n.3668-84C>T | |
| NM_001400173.1:c.3578-84C>T | NP_001387102.1:n.3578-84C>T | |
| NM_001400175.1:c.3803-84C>T | NP_001387104.1:n.3803-84C>T | |
| NM_001400177.1:c.3803-84C>T | NP_001387106.1:n.3803-84C>T | |
| NM_001400178.1:c.3713-84C>T | NP_001387107.1:n.3713-84C>T | |
| NM_001400181.1:c.3578-84C>T | NP_001387110.1:n.3578-84C>T | |
| NR_174404.1:n.3329-84C>T | ||
| NR_174405.1:n.4038-84C>T |