gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63440515 (AFR)
Genomes Max Group AF
0.63440515 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52588070G>A , CM000665.2:g.52588070G>A | GRCh38 |
| NC_000003.11:g.52622086G>A , CM000665.1:g.52622086G>A | GRCh37 |
| NC_000003.10:g.52597126G>A | NCBI36 |
| NG_032108.1:g.102781C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707071.1:c.3011-560C>T MANE Select | ENSP00000516722.1:n.3011-560C>T | |
| ENST00000296302.11:c.2966-560C>T | ENSP00000296302.7:n.2966-560C>T | |
| ENST00000337303.8:c.2966-560C>T | ENSP00000338302.4:n.2966-560C>T | |
| ENST00000356770.8:c.2870-560C>T | ENSP00000349213.4:n.2870-560C>T | |
| ENST00000394830.7:c.2966-635C>T | ENSP00000378307.3:n.2966-635C>T | |
| ENST00000409057.5:c.2966-560C>T | ENSP00000386593.1:n.2966-560C>T | |
| ENST00000409114.7:c.3011-560C>T | ENSP00000386643.3:n.3011-560C>T | |
| ENST00000409767.5:c.3011-560C>T | ENSP00000386601.1:n.3011-560C>T | |
| ENST00000410007.5:c.2966-635C>T | ENSP00000386529.1:n.2966-635C>T | |
| ENST00000412587.5:c.*180-560C>T | ENSP00000404579.1:n.*180-560C>T | |
| ENST00000423351.5:c.2963-560C>T | ENSP00000387775.1:n.2963-560C>T | |
| ENST00000446103.5:c.2840-560C>T | ENSP00000397662.1:n.2840-560C>T | |
| ENST00000462207.1:n.548-560C>T | ||
| NM_018313.4:c.2966-635C>T | NP_060783.3:n.2966-635C>T | |
| XM_005265275.3:c.3065-560C>T | XP_005265332.1:n.3065-560C>T | |
| XM_005265279.3:c.3011-560C>T | XP_005265336.1:n.3011-560C>T | |
| XM_005265280.2:c.3011-560C>T | XP_005265337.1:n.3011-560C>T | |
| XM_005265282.2:c.3011-560C>T | XP_005265339.1:n.3011-560C>T | |
| XM_005265283.2:c.3011-560C>T | XP_005265340.1:n.3011-560C>T | |
| XM_006713220.2:c.3065-560C>T | XP_006713283.1:n.3065-560C>T | |
| XM_006713221.2:c.3065-560C>T | XP_006713284.1:n.3065-560C>T | |
| XM_011533900.1:c.3074-560C>T | XP_011532202.1:n.3074-560C>T | |
| XM_011533901.1:c.3074-560C>T | XP_011532203.1:n.3074-560C>T | |
| XM_011533902.1:c.3074-560C>T | XP_011532204.1:n.3074-560C>T | |
| XM_011533903.1:c.3074-560C>T | XP_011532205.1:n.3074-560C>T | |
| XM_011533904.1:c.3071-560C>T | XP_011532206.1:n.3071-560C>T | |
| XM_011533905.1:c.3071-560C>T | XP_011532207.1:n.3071-560C>T | |
| XM_011533906.1:c.3029-560C>T | XP_011532208.1:n.3029-560C>T | |
| XM_011533907.1:c.3011-560C>T | XP_011532209.1:n.3011-560C>T | |
| XM_011533908.1:c.3011-560C>T | XP_011532210.1:n.3011-560C>T | |
| XM_011533909.1:c.3074-635C>T | XP_011532211.1:n.3074-635C>T | |
| XM_011533910.1:c.2978-560C>T | XP_011532212.1:n.2978-560C>T | |
| XM_011533911.1:c.3029-635C>T | XP_011532213.1:n.3029-635C>T | |
| XM_011533912.1:c.3074-560C>T | XP_011532214.1:n.3074-560C>T | |
| XM_011533913.1:c.3074-560C>T | XP_011532215.1:n.3074-560C>T | |
| XM_011533914.1:c.3029-560C>T | XP_011532216.1:n.3029-560C>T | |
| XM_011533915.1:c.3026-560C>T | XP_011532217.1:n.3026-560C>T | |
| XM_011533916.1:c.3029-635C>T | XP_011532218.1:n.3029-635C>T | |
| XM_011533917.1:c.2933-560C>T | XP_011532219.1:n.2933-560C>T | |
| XM_011533918.1:c.3074-560C>T | XP_011532220.1:n.3074-560C>T | |
| XM_011533919.1:c.3029-560C>T | XP_011532221.1:n.3029-560C>T | |
| XR_940466.1:n.3506-560C>T | ||
| NM_001350074.1:c.3074-560C>T | NP_001337003.1:n.3074-560C>T | |
| NM_001350075.1:c.2966-560C>T | NP_001337004.1:n.2966-560C>T | |
| NM_001350076.1:c.3071-560C>T | NP_001337005.1:n.3071-560C>T | |
| NM_001350077.1:c.3065-560C>T | NP_001337006.1:n.3065-560C>T | |
| NM_001350078.1:c.3074-560C>T | NP_001337007.1:n.3074-560C>T | |
| NM_001350079.1:c.3029-635C>T | NP_001337008.1:n.3029-635C>T | |
| NM_001366070.1:c.3074-560C>T | NP_001352999.1:n.3074-560C>T | |
| NM_001366071.1:c.3029-560C>T | NP_001353000.1:n.3029-560C>T | |
| NM_001366072.1:c.3029-560C>T | NP_001353001.1:n.3029-560C>T | |
| NM_001366073.1:c.3020-560C>T | NP_001353002.1:n.3020-560C>T | |
| NM_001366074.1:c.3017-560C>T | NP_001353003.1:n.3017-560C>T | |
| NM_001366075.1:c.3074-635C>T | NP_001353004.1:n.3074-635C>T | |
| NM_001366076.1:c.2969-560C>T | NP_001353005.1:n.2969-560C>T | |
| NM_181042.4:c.2966-560C>T | NP_851385.1:n.2966-560C>T | |
| XM_005265279.5:c.3011-560C>T | XP_005265336.1:n.3011-560C>T | |
| XM_005265280.3:c.3011-560C>T | XP_005265337.1:n.3011-560C>T | |
| XM_005265282.4:c.3011-560C>T | XP_005265339.1:n.3011-560C>T | |
| XM_011533900.3:c.3074-560C>T | XP_011532202.1:n.3074-560C>T | |
| XM_011533902.3:c.3074-560C>T | XP_011532204.1:n.3074-560C>T | |
| XM_011533903.3:c.3074-560C>T | XP_011532205.1:n.3074-560C>T | |
| XM_017006725.1:c.3101-560C>T | XP_016862214.1:n.3101-560C>T | |
| XM_017006726.1:c.3101-560C>T | XP_016862215.1:n.3101-560C>T | |
| XM_017006727.1:c.3101-560C>T | XP_016862216.1:n.3101-560C>T | |
| XM_017006728.1:c.3101-560C>T | XP_016862217.1:n.3101-560C>T | |
| XM_017006729.2:c.3098-560C>T | XP_016862218.1:n.3098-560C>T | |
| XM_017006730.1:c.3092-560C>T | XP_016862219.1:n.3092-560C>T | |
| XM_017006731.1:c.3092-560C>T | XP_016862220.1:n.3092-560C>T | |
| XM_017006732.1:c.3071-560C>T | XP_016862221.1:n.3071-560C>T | |
| XM_017006733.2:c.3062-560C>T | XP_016862222.1:n.3062-560C>T | |
| XM_017006734.2:c.3062-560C>T | XP_016862223.1:n.3062-560C>T | |
| XM_017006735.2:c.3056-560C>T | XP_016862224.1:n.3056-560C>T | |
| XM_017006736.1:c.3053-560C>T | XP_016862225.1:n.3053-560C>T | |
| XM_017006737.1:c.3038-560C>T | XP_016862226.1:n.3038-560C>T | |
| XM_017006738.2:c.3038-560C>T | XP_016862227.1:n.3038-560C>T | |
| XM_017006739.1:c.3038-560C>T | XP_016862228.1:n.3038-560C>T | |
| XM_017006740.1:c.3038-560C>T | XP_016862229.1:n.3038-560C>T | |
| XM_017006741.2:c.3029-560C>T | XP_016862230.1:n.3029-560C>T | |
| XM_017006742.1:c.3029-560C>T | XP_016862231.1:n.3029-560C>T | |
| XM_017006743.2:c.3101-635C>T | XP_016862232.1:n.3101-635C>T | |
| XM_017006744.1:c.3020-560C>T | XP_016862233.1:n.3020-560C>T | |
| XM_017006745.2:c.3011-560C>T | XP_016862234.1:n.3011-560C>T | |
| XM_017006746.2:c.3011-560C>T | XP_016862235.1:n.3011-560C>T | |
| XM_017006747.1:c.3005-560C>T | XP_016862236.1:n.3005-560C>T | |
| XM_017006748.1:c.2966-560C>T | XP_016862237.1:n.2966-560C>T | |
| XM_017006749.1:c.2966-560C>T | XP_016862238.1:n.2966-560C>T | |
| XM_017006750.1:c.2966-560C>T | XP_016862239.1:n.2966-560C>T | |
| XM_017006751.2:c.3029-635C>T | XP_016862240.1:n.3029-635C>T | |
| XM_017006752.1:c.3101-560C>T | XP_016862241.1:n.3101-560C>T | |
| XM_017006753.2:c.3101-560C>T | XP_016862242.1:n.3101-560C>T | |
| XM_017006754.1:c.3074-560C>T | XP_016862243.1:n.3074-560C>T | |
| XM_017006755.2:c.3029-560C>T | XP_016862244.1:n.3029-560C>T | |
| XM_017006756.2:c.3026-560C>T | XP_016862245.1:n.3026-560C>T | |
| XM_017006758.1:c.2966-560C>T | XP_016862247.1:n.2966-560C>T | |
| XM_017006759.2:c.3029-635C>T | XP_016862248.1:n.3029-635C>T | |
| XM_017006764.2:c.3029-560C>T | XP_016862253.1:n.3029-560C>T | |
| XM_024453618.1:c.3065-560C>T | XP_024309386.1:n.3065-560C>T | |
| XM_024453619.1:c.3065-560C>T | XP_024309387.1:n.3065-560C>T | |
| XR_001740194.2:n.3886-560C>T | ||
| NM_001350074.2:c.3074-560C>T | NP_001337003.1:n.3074-560C>T | |
| NM_001350075.2:c.2966-560C>T | NP_001337004.1:n.2966-560C>T | |
| NM_001350076.2:c.3071-560C>T | NP_001337005.1:n.3071-560C>T | |
| NM_001350077.2:c.3065-560C>T | NP_001337006.1:n.3065-560C>T | |
| NM_001350078.2:c.3074-560C>T | NP_001337007.1:n.3074-560C>T | |
| NM_001350079.2:c.3029-635C>T | NP_001337008.1:n.3029-635C>T | |
| NM_001366070.2:c.3074-560C>T | NP_001352999.1:n.3074-560C>T | |
| NM_001366071.2:c.3029-560C>T | NP_001353000.1:n.3029-560C>T | |
| NM_001366072.2:c.3029-560C>T | NP_001353001.1:n.3029-560C>T | |
| NM_001366073.2:c.3020-560C>T | NP_001353002.1:n.3020-560C>T | |
| NM_001366074.2:c.3017-560C>T | NP_001353003.1:n.3017-560C>T | |
| NM_001366075.2:c.3074-635C>T | NP_001353004.1:n.3074-635C>T | |
| NM_001366076.2:c.2969-560C>T | NP_001353005.1:n.2969-560C>T | |
| NM_018313.5:c.2966-635C>T | NP_060783.3:n.2966-635C>T | |
| NM_181042.5:c.2966-560C>T | NP_851385.1:n.2966-560C>T | |
| NM_001394867.1:c.2966-560C>T | NP_001381796.1:n.2966-560C>T | |
| NM_001394868.1:c.2966-560C>T | NP_001381797.1:n.2966-560C>T | |
| NM_001394869.1:c.2966-560C>T | NP_001381798.1:n.2966-560C>T | |
| NM_001394870.1:c.3020-560C>T | NP_001381799.1:n.3020-560C>T | |
| NM_001394871.1:c.2966-560C>T | NP_001381800.1:n.2966-560C>T | |
| NM_001394872.1:c.2966-560C>T | NP_001381801.1:n.2966-560C>T | |
| NM_001394873.1:c.2963-560C>T | NP_001381802.1:n.2963-560C>T | |
| NM_001394874.1:c.2963-560C>T | NP_001381803.1:n.2963-560C>T | |
| NM_001394875.1:c.2966-560C>T | NP_001381804.1:n.2966-560C>T | |
| NM_001394876.1:c.2963-560C>T | NP_001381805.1:n.2963-560C>T | |
| NM_001394877.1:c.2963-560C>T | NP_001381806.1:n.2963-560C>T | |
| NM_001394878.1:c.2930-560C>T | NP_001381807.1:n.2930-560C>T | |
| NM_001394879.1:c.2870-560C>T | NP_001381808.1:n.2870-560C>T | |
| NM_001400470.1:c.2966-560C>T | NP_001387399.1:n.2966-560C>T | |
| NM_001400471.1:c.3011-635C>T | NP_001387400.1:n.3011-635C>T | |
| NM_001400472.1:c.2987-560C>T | NP_001387401.1:n.2987-560C>T | |
| NM_001400473.1:c.2963-560C>T | NP_001387402.1:n.2963-560C>T | |
| NM_001400474.1:c.2966-560C>T | NP_001387403.1:n.2966-560C>T | |
| NM_001400475.1:c.2966-560C>T | NP_001387404.1:n.2966-560C>T | |
| NM_001400479.1:c.2966-560C>T | NP_001387408.1:n.2966-560C>T | |
| NM_001400481.1:c.2963-560C>T | NP_001387410.1:n.2963-560C>T | |
| NM_001400484.1:c.2966-635C>T | NP_001387413.1:n.2966-635C>T | |
| NM_001400487.1:c.2870-560C>T | NP_001387416.1:n.2870-560C>T | |
| NM_001400490.1:c.2966-635C>T | NP_001387419.1:n.2966-635C>T | |
| NM_001400496.1:c.2966-560C>T | NP_001387425.1:n.2966-560C>T | |
| NM_001400500.1:c.2966-560C>T | NP_001387429.1:n.2966-560C>T | |
| NM_001400501.1:c.2966-560C>T | NP_001387430.1:n.2966-560C>T | |
| NM_001400504.1:c.2966-635C>T | NP_001387433.1:n.2966-635C>T | |
| NR_174502.1:n.3146-560C>T |