Linked Data
ClinVar Variation Id:
315438
ClinVar RCV Id:
RCV000295889
dbSNP Id:
rs776280755
ExAC:
15:25207265 C / T
gnomAD v2:
15-25207265-C-T
gnomAD v4:
15-24962118-C-T
COSMIC:
COSM3500158
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.24962118C>T , CM000677.2:g.24962118C>T | GRCh38 |
| NC_000015.9:g.25207265C>T , CM000677.1:g.25207265C>T | GRCh37 |
| NC_000015.8:g.22758358C>T | NCBI36 |
| NG_012958.1:g.143472C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577949.6:c.19C>T (SNURF) MANE Select | ENSP00000463201.1:p.Arg7Cys | |
| ENST00000390687.9:c.-386C>T (SNRPN) MANE Select | ENSP00000375105.4:n.-386C>T | |
| ENST00000642807.1:c.-386C>T (SNRPN) | ENSP00000495345.1:n.-386C>T | |
| ENST00000645002.1:c.-386C>T (SNRPN) | ENSP00000494831.1:n.-386C>T | |
| ENST00000338327.4:c.19C>T (SNURF) | ENSP00000342152.4:p.Arg7Cys | |
| ENST00000346403.10:c.-310C>T (SNRPN) | ENSP00000306223.10:n.-310C>T | |
| ENST00000390687.8:c.-386C>T (SNRPN) | ENSP00000375105.4:n.-386C>T | |
| ENST00000400097.5:c.-386C>T (SNRPN) | ENSP00000382969.1:n.-386C>T | |
| ENST00000400098.6:n.380C>T (SNRPN) | ||
| ENST00000400100.5:c.-386C>T (SNRPN) | ENSP00000382972.1:n.-386C>T | |
| ENST00000551312.6:c.19C>T | ENSP00000451421.1:p.Arg7Cys | |
| ENST00000553597.5:n.483C>T (SNRPN) | ||
| ENST00000554227.6:c.-814C>T (SNRPN) | ENSP00000452342.2:n.-814C>T | |
| ENST00000557230.1:c.19C>T | ENSP00000451898.1:p.Arg7Cys | |
| ENST00000577565.1:c.-409C>T (SNRPN) | ENSP00000463458.1:n.-409C>T | |
| ENST00000577949.5:c.19C>T (SNURF) | ENSP00000463201.1:p.Arg7Cys | |
| ENST00000579070.5:c.-299C>T (SNRPN) | ENSP00000463510.1:n.-299C>T | |
| ENST00000580062.5:c.19C>T (SNURF) | ENSP00000463396.1:p.Arg7Cys | |
| ENST00000584968.5:c.-598C>T (SNRPN) | ENSP00000462211.1:n.-598C>T | |
| NM_003097.3:c.-386C>T (SNRPN) | NP_003088.1:n.-386C>T | |
| NM_005678.3:c.19C>T (SNURF) | NP_005669.2:p.Arg7Cys | |
| NM_022804.2:c.19C>T (SNURF) | NP_073715.1:p.Arg7Cys | |
| NM_022805.2:c.-386C>T (SNRPN) | NP_073716.1:n.-386C>T | |
| NM_022806.2:c.-386C>T (SNRPN) | NP_073717.1:n.-386C>T | |
| NM_022807.2:c.-386C>T (SNRPN) | NP_073718.1:n.-386C>T | |
| NM_022808.2:c.-386C>T (SNRPN) | NP_073719.1:n.-386C>T | |
| NM_001349454.1:c.-235C>T (SNRPN) | NP_001336383.1:n.-235C>T | |
| NM_001349455.1:c.-386C>T (SNRPN) | NP_001336384.1:n.-386C>T | |
| NM_001349456.1:c.-386C>T (SNRPN) | NP_001336385.1:n.-386C>T | |
| NM_001349457.1:c.-386C>T (SNRPN) | NP_001336386.1:n.-386C>T | |
| NM_001349458.1:c.-386C>T (SNRPN) | NP_001336387.1:n.-386C>T | |
| NM_001349459.1:c.-386C>T (SNRPN) | NP_001336388.1:n.-386C>T | |
| NM_001349460.1:c.-386C>T (SNRPN) | NP_001336389.1:n.-386C>T | |
| NM_001349461.1:c.-386C>T (SNRPN) | NP_001336390.1:n.-386C>T | |
| NM_001349462.1:c.-386C>T (SNRPN) | NP_001336391.1:n.-386C>T | |
| NM_001349463.1:c.-510C>T (SNRPN) | NP_001336392.1:n.-510C>T | |
| NM_001349464.1:c.-386C>T (SNRPN) | NP_001336393.1:n.-386C>T | |
| NM_001349465.1:c.-386C>T (SNRPN) | NP_001336394.1:n.-386C>T | |
| NM_003097.5:c.-386C>T (SNRPN) | NP_003088.1:n.-386C>T | |
| NM_005678.4:c.19C>T (SNURF) | NP_005669.2:p.Arg7Cys | |
| NM_022805.4:c.-386C>T (SNRPN) | NP_073716.1:n.-386C>T | |
| NM_022806.4:c.-386C>T (SNRPN) | NP_073717.1:n.-386C>T | |
| NM_022807.4:c.-386C>T (SNRPN) | NP_073718.1:n.-386C>T | |
| NM_022808.4:c.-386C>T (SNRPN) | NP_073719.1:n.-386C>T | |
| NR_146177.1:n.517C>T (SNHG14) | ||
| NM_022804.3:c.19C>T (SNURF) | NP_073715.1:p.Arg7Cys | |
| NM_001349454.2:c.-235C>T (SNRPN) | NP_001336383.1:n.-235C>T | |
| NM_001349455.2:c.-386C>T (SNRPN) | NP_001336384.1:n.-386C>T | |
| NM_001349456.2:c.-386C>T (SNRPN) | NP_001336385.1:n.-386C>T | |
| NM_001349457.2:c.-386C>T (SNRPN) | NP_001336386.1:n.-386C>T | |
| NM_001349458.2:c.-386C>T (SNRPN) | NP_001336387.1:n.-386C>T | |
| NM_001349459.2:c.-386C>T (SNRPN) | NP_001336388.1:n.-386C>T | |
| NM_001349460.2:c.-386C>T (SNRPN) | NP_001336389.1:n.-386C>T | |
| NM_001349461.2:c.-386C>T (SNRPN) | NP_001336390.1:n.-386C>T | |
| NM_001349462.2:c.-386C>T (SNRPN) | NP_001336391.1:n.-386C>T | |
| NM_001349463.2:c.-510C>T (SNRPN) | NP_001336392.1:n.-510C>T | |
| NM_001349464.2:c.-386C>T (SNRPN) | NP_001336393.1:n.-386C>T | |
| NM_001349465.2:c.-386C>T (SNRPN) | NP_001336394.1:n.-386C>T | |
| NM_001378249.1:c.-556C>T (SNRPN) | NP_001365178.1:n.-556C>T | |
| NM_001378251.1:c.-544C>T (SNRPN) | NP_001365180.1:n.-544C>T | |
| NM_001378252.1:c.-690C>T (SNRPN) | NP_001365181.1:n.-690C>T | |
| NM_001378253.1:c.-544C>T (SNRPN) | NP_001365182.1:n.-544C>T | |
| NM_001378254.1:c.-814C>T (SNRPN) | NP_001365183.1:n.-814C>T | |
| NM_001378255.1:c.-539C>T (SNRPN) | NP_001365184.1:n.-539C>T | |
| NM_001378256.1:c.-264C>T (SNRPN) | NP_001365185.1:n.-264C>T | |
| NM_001378257.1:c.-264C>T (SNRPN) | NP_001365186.1:n.-264C>T | |
| NM_003097.6:c.-386C>T (SNRPN) MANE Select | NP_003088.1:n.-386C>T | |
| NM_005678.5:c.19C>T (SNURF) | NP_005669.2:p.Arg7Cys | |
| NM_022805.5:c.-386C>T (SNRPN) | NP_073716.1:n.-386C>T | |
| NM_022806.5:c.-386C>T (SNRPN) | NP_073717.1:n.-386C>T | |
| NM_022807.5:c.-386C>T (SNRPN) | NP_073718.1:n.-386C>T | |
| NM_022808.5:c.-386C>T (SNRPN) | NP_073719.1:n.-386C>T | |
| NM_001394334.1:c.19C>T (SNURF) MANE Select | NP_001381263.1:p.Arg7Cys | |
| NM_001400634.1:c.-235C>T (SNRPN) | NP_001387563.1:n.-235C>T | |
| NM_001400635.1:c.-386C>T (SNRPN) | NP_001387564.1:n.-386C>T | |
| NM_001400636.1:c.-386C>T (SNRPN) | NP_001387565.1:n.-386C>T | |
| NM_001400637.1:c.-386C>T (SNRPN) | NP_001387566.1:n.-386C>T | |
| NM_001400638.1:c.-386C>T (SNRPN) | NP_001387567.1:n.-386C>T | |
| NM_001400639.1:c.-386C>T (SNRPN) | NP_001387568.1:n.-386C>T | |
| NM_001400640.1:c.-386C>T (SNRPN) | NP_001387569.1:n.-386C>T | |
| NM_001400641.1:c.-386C>T (SNRPN) | NP_001387570.1:n.-386C>T | |
| NM_001400643.1:c.-386C>T (SNRPN) | NP_001387572.1:n.-386C>T | |
| NM_001400644.1:c.-386C>T (SNRPN) | NP_001387573.1:n.-386C>T | |
| NM_001400646.1:c.-386C>T (SNRPN) | NP_001387575.1:n.-386C>T | |
| NM_001400647.1:c.-386C>T (SNRPN) | NP_001387576.1:n.-386C>T | |
| NM_001400649.1:c.-386C>T (SNRPN) | NP_001387578.1:n.-386C>T | |
| NM_001400650.1:c.-386C>T (SNRPN) | NP_001387579.1:n.-386C>T | |
| NM_001400652.1:c.-386C>T (SNRPN) | NP_001387581.1:n.-386C>T | |
| NM_001400683.1:c.-386C>T (SNRPN) | NP_001387612.1:n.-386C>T | |
| NM_001400684.1:c.-386C>T (SNRPN) | NP_001387613.1:n.-386C>T | |
| NM_001400685.1:c.-386C>T (SNRPN) | NP_001387614.1:n.-386C>T | |
| NM_001400686.1:c.-386C>T (SNRPN) | NP_001387615.1:n.-386C>T | |
| NM_001400687.1:c.-386C>T (SNRPN) | NP_001387616.1:n.-386C>T | |
| NM_001400688.1:c.-386C>T (SNRPN) | NP_001387617.1:n.-386C>T | |
| NM_001400689.1:c.-386C>T (SNRPN) | NP_001387618.1:n.-386C>T | |
| NM_001400690.1:c.-386C>T (SNRPN) | NP_001387619.1:n.-386C>T | |
| NM_001400691.1:c.-386C>T (SNRPN) | NP_001387620.1:n.-386C>T | |
| NM_001400692.1:c.-386C>T (SNRPN) | NP_001387621.1:n.-386C>T | |
| NM_001400693.1:c.-386C>T (SNRPN) | NP_001387622.1:n.-386C>T | |
| NM_001400694.1:c.-386C>T (SNRPN) | NP_001387623.1:n.-386C>T | |
| NM_001400695.1:c.-386C>T (SNRPN) | NP_001387624.1:n.-386C>T | |
| NM_001400696.1:c.-510C>T (SNRPN) | NP_001387625.1:n.-510C>T | |
| NM_001400697.1:c.-317-5814C>T (SNRPN) | NP_001387626.1:n.-317-5814C>T | |
| NM_001400698.1:c.-235C>T (SNRPN) | NP_001387627.1:n.-235C>T | |
| NM_001400701.1:c.-386C>T (SNRPN) | NP_001387630.1:n.-386C>T | |
| NM_001400702.1:c.-386C>T (SNRPN) | NP_001387631.1:n.-386C>T | |
| NM_001400703.1:c.-386C>T (SNRPN) | NP_001387632.1:n.-386C>T | |
| NM_001400704.1:c.-386C>T (SNRPN) | NP_001387633.1:n.-386C>T | |
| NM_001400706.1:c.-386C>T (SNRPN) | NP_001387635.1:n.-386C>T | |
| NM_001400708.1:c.-386C>T (SNRPN) | NP_001387637.1:n.-386C>T | |
| NM_001400710.1:c.-386C>T (SNRPN) | NP_001387639.1:n.-386C>T | |
| NM_001400712.1:c.-386C>T (SNRPN) | NP_001387641.1:n.-386C>T | |
| NM_001400713.1:c.-386C>T (SNRPN) | NP_001387642.1:n.-386C>T | |
| NM_001400715.1:c.-386C>T (SNRPN) | NP_001387644.1:n.-386C>T | |
| NM_001400716.1:c.-386C>T (SNRPN) | NP_001387645.1:n.-386C>T | |
| NM_001400717.1:c.-386C>T (SNRPN) | NP_001387646.1:n.-386C>T | |
| NM_001400718.1:c.-386C>T (SNRPN) | NP_001387647.1:n.-386C>T | |
| NM_001400719.1:c.-386C>T (SNRPN) | NP_001387648.1:n.-386C>T | |
| NM_001400720.1:c.-294-5814C>T (SNRPN) | NP_001387649.1:n.-294-5814C>T | |
| NM_001400721.1:c.-386C>T (SNRPN) | NP_001387650.1:n.-386C>T | |
| NM_001400722.1:c.-386C>T (SNRPN) | NP_001387651.1:n.-386C>T | |
| NM_001400723.1:c.-386C>T (SNRPN) | NP_001387652.1:n.-386C>T | |
| NM_001400724.1:c.-386C>T (SNRPN) | NP_001387653.1:n.-386C>T | |
| NM_001400725.1:c.-579C>T (SNRPN) | NP_001387654.1:n.-579C>T | |
| NM_001400726.1:c.-386C>T (SNRPN) | NP_001387655.1:n.-386C>T | |
| NM_001400727.1:c.-310C>T (SNRPN) | NP_001387656.1:n.-310C>T | |
| NM_001400728.1:c.-409C>T (SNRPN) | NP_001387657.1:n.-409C>T | |
| NM_001400729.1:c.-399C>T (SNRPN) | NP_001387658.1:n.-399C>T | |
| NM_001400730.1:c.-144+7056C>T (SNRPN) | NP_001387659.1:n.-144+7056C>T | |
| NM_001400731.1:c.-386C>T (SNRPN) | NP_001387660.1:n.-386C>T | |
| NM_001400732.1:c.-386C>T (SNRPN) | NP_001387661.1:n.-386C>T | |
| NM_001400733.1:c.-386C>T (SNRPN) | NP_001387662.1:n.-386C>T | |
| NM_001400734.1:c.-386C>T (SNRPN) | NP_001387663.1:n.-386C>T | |
| NM_001400735.1:c.-386C>T (SNRPN) | NP_001387664.1:n.-386C>T | |
| NM_001400736.1:c.-386C>T (SNRPN) | NP_001387665.1:n.-386C>T | |
| NM_001400737.1:c.-235C>T (SNRPN) | NP_001387666.1:n.-235C>T | |
| NM_001400738.1:c.-386C>T (SNRPN) | NP_001387667.1:n.-386C>T | |
| NM_001400739.1:c.-386C>T (SNRPN) | NP_001387668.1:n.-386C>T | |
| NM_001400740.1:c.-386C>T (SNRPN) | NP_001387669.1:n.-386C>T | |
| NM_001400741.1:c.-386C>T (SNRPN) | NP_001387670.1:n.-386C>T | |
| NM_001400742.1:c.-386C>T (SNRPN) | NP_001387671.1:n.-386C>T | |
| NM_001400743.1:c.-386C>T (SNRPN) | NP_001387672.1:n.-386C>T | |
| NM_001400744.1:c.-334C>T (SNRPN) | NP_001387673.1:n.-334C>T | |
| NM_001400745.1:c.-386C>T (SNRPN) | NP_001387674.1:n.-386C>T | |
| NM_001400746.1:c.-386C>T (SNRPN) | NP_001387675.1:n.-386C>T | |
| NM_001400747.1:c.-310C>T (SNRPN) | NP_001387676.1:n.-310C>T | |
| NM_001400748.1:c.-386C>T (SNRPN) | NP_001387677.1:n.-386C>T | |
| NM_001400753.1:c.-386C>T (SNRPN) | NP_001387682.1:n.-386C>T | |
| NM_001400754.1:c.-333C>T (SNRPN) | NP_001387683.1:n.-333C>T | |
| NM_001400755.1:c.-386C>T (SNRPN) | NP_001387684.1:n.-386C>T | |
| NM_001400756.1:c.-235C>T (SNRPN) | NP_001387685.1:n.-235C>T | |
| NM_001400757.1:c.-386C>T (SNRPN) | NP_001387686.1:n.-386C>T | |
| NM_001400758.1:c.-386C>T (SNRPN) | NP_001387687.1:n.-386C>T | |
| NM_001400759.1:c.-409C>T (SNRPN) | NP_001387688.1:n.-409C>T | |
| NM_001400762.1:c.-235C>T (SNRPN) | NP_001387691.1:n.-235C>T | |
| NM_001400763.1:c.-386C>T (SNRPN) | NP_001387692.1:n.-386C>T | |
| NM_001400764.1:c.-409C>T (SNRPN) | NP_001387693.1:n.-409C>T | |
| NM_001400765.1:c.-386C>T (SNRPN) | NP_001387694.1:n.-386C>T | |
| NM_001400767.1:c.-264C>T (SNRPN) | NP_001387696.1:n.-264C>T | |
| NM_001400768.1:c.-386C>T (SNRPN) | NP_001387697.1:n.-386C>T |