Linked Data
ClinVar Variation Id:
315436
ClinVar RCV Id:
RCV000335499
dbSNP Id:
rs80135925
gnomAD v2:
15-25131672-C-T
gnomAD v3:
15-24886525-C-T
gnomAD v4:
15-24886525-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.24886525C>T , CM000677.2:g.24886525C>T | GRCh38 |
| NC_000015.9:g.25131672C>T , CM000677.1:g.25131672C>T | GRCh37 |
| NC_000015.8:g.22682765C>T | NCBI36 |
| NG_012958.1:g.67879C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642807.1:c.-757C>T (SNRPN) | ENSP00000495345.1:n.-757C>T | |
| ENST00000645002.1:c.-868C>T (SNRPN) | ENSP00000494831.1:n.-868C>T | |
| ENST00000400097.5:c.-569C>T (SNRPN) | ENSP00000382969.1:n.-569C>T | |
| ENST00000400098.6:n.197C>T (SNRPN) | ||
| ENST00000400100.5:c.-569C>T (SNRPN) | ENSP00000382972.1:n.-569C>T | |
| ENST00000553597.5:n.126C>T (SNRPN) | ||
| NM_022805.2:c.-569C>T (SNRPN) | NP_073716.1:n.-569C>T | |
| NM_022806.2:c.-569C>T (SNRPN) | NP_073717.1:n.-569C>T | |
| NM_022807.2:c.-569C>T (SNRPN) | NP_073718.1:n.-569C>T | |
| NM_022808.2:c.-569C>T (SNRPN) | NP_073719.1:n.-569C>T | |
| NM_001349454.1:c.-792C>T (SNRPN) | NP_001336383.1:n.-792C>T | |
| NM_001349455.1:c.-737C>T (SNRPN) | NP_001336384.1:n.-737C>T | |
| NM_001349456.1:c.-644C>T (SNRPN) | NP_001336385.1:n.-644C>T | |
| NM_001349457.1:c.-737C>T (SNRPN) | NP_001336386.1:n.-737C>T | |
| NM_001349458.1:c.-569C>T (SNRPN) | NP_001336387.1:n.-569C>T | |
| NM_001349459.1:c.-504-33486C>T (SNRPN) | NP_001336388.1:n.-504-33486C>T | |
| NM_001349460.1:c.-812C>T (SNRPN) | NP_001336389.1:n.-812C>T | |
| NM_001349461.1:c.-644C>T (SNRPN) | NP_001336390.1:n.-644C>T | |
| NM_001349462.1:c.-737C>T (SNRPN) | NP_001336391.1:n.-737C>T | |
| NM_022805.4:c.-569C>T (SNRPN) | NP_073716.1:n.-569C>T | |
| NM_022806.4:c.-569C>T (SNRPN) | NP_073717.1:n.-569C>T | |
| NM_022807.4:c.-569C>T (SNRPN) | NP_073718.1:n.-569C>T | |
| NM_022808.4:c.-569C>T (SNRPN) | NP_073719.1:n.-569C>T | |
| NR_146177.1:n.334C>T (SNHG14) | ||
| NM_001349454.2:c.-792C>T (SNRPN) | NP_001336383.1:n.-792C>T | |
| NM_001349455.2:c.-737C>T (SNRPN) | NP_001336384.1:n.-737C>T | |
| NM_001349456.2:c.-644C>T (SNRPN) | NP_001336385.1:n.-644C>T | |
| NM_001349457.2:c.-737C>T (SNRPN) | NP_001336386.1:n.-737C>T | |
| NM_001349458.2:c.-569C>T (SNRPN) | NP_001336387.1:n.-569C>T | |
| NM_001349459.2:c.-504-33486C>T (SNRPN) | NP_001336388.1:n.-504-33486C>T | |
| NM_001349460.2:c.-812C>T (SNRPN) | NP_001336389.1:n.-812C>T | |
| NM_001349461.2:c.-644C>T (SNRPN) | NP_001336390.1:n.-644C>T | |
| NM_001349462.2:c.-737C>T (SNRPN) | NP_001336391.1:n.-737C>T | |
| NM_001378251.1:c.-802C>T (SNRPN) | NP_001365180.1:n.-802C>T | |
| NM_022805.5:c.-569C>T (SNRPN) | NP_073716.1:n.-569C>T | |
| NM_022806.5:c.-569C>T (SNRPN) | NP_073717.1:n.-569C>T | |
| NM_022807.5:c.-569C>T (SNRPN) | NP_073718.1:n.-569C>T | |
| NM_022808.5:c.-569C>T (SNRPN) | NP_073719.1:n.-569C>T | |
| NM_001400634.1:c.-521-25838C>T (SNRPN) | NP_001387563.1:n.-521-25838C>T | |
| NM_001400635.1:c.-743C>T (SNRPN) | NP_001387564.1:n.-743C>T | |
| NM_001400636.1:c.-552C>T (SNRPN) | NP_001387565.1:n.-552C>T | |
| NM_001400637.1:c.-569C>T (SNRPN) | NP_001387566.1:n.-569C>T | |
| NM_001400638.1:c.-733C>T (SNRPN) | NP_001387567.1:n.-733C>T | |
| NM_001400639.1:c.-685C>T (SNRPN) | NP_001387568.1:n.-685C>T | |
| NM_001400640.1:c.-1027C>T (SNRPN) | NP_001387569.1:n.-1027C>T | |
| NM_001400641.1:c.-853C>T (SNRPN) | NP_001387570.1:n.-853C>T | |
| NM_001400643.1:c.-853C>T (SNRPN) | NP_001387572.1:n.-853C>T | |
| NM_001400644.1:c.-775C>T (SNRPN) | NP_001387573.1:n.-775C>T | |
| NM_001400646.1:c.-816C>T (SNRPN) | NP_001387575.1:n.-816C>T | |
| NM_001400647.1:c.-685C>T (SNRPN) | NP_001387576.1:n.-685C>T | |
| NM_001400649.1:c.-700C>T (SNRPN) | NP_001387578.1:n.-700C>T | |
| NM_001400650.1:c.-391+62702C>T (SNRPN) | NP_001387579.1:n.-391+62702C>T | |
| NM_001400652.1:c.-856C>T (SNRPN) | NP_001387581.1:n.-856C>T | |
| NM_001400683.1:c.-760C>T (SNRPN) | NP_001387612.1:n.-760C>T | |
| NM_001400684.1:c.-757C>T (SNRPN) | NP_001387613.1:n.-757C>T | |
| NM_001400685.1:c.-691C>T (SNRPN) | NP_001387614.1:n.-691C>T | |
| NM_001400686.1:c.-888C>T (SNRPN) | NP_001387615.1:n.-888C>T | |
| NM_001400687.1:c.-569C>T (SNRPN) | NP_001387616.1:n.-569C>T | |
| NM_001400688.1:c.-569C>T (SNRPN) | NP_001387617.1:n.-569C>T | |
| NM_001400689.1:c.-644C>T (SNRPN) | NP_001387618.1:n.-644C>T | |
| NM_001400690.1:c.-925C>T (SNRPN) | NP_001387619.1:n.-925C>T | |
| NM_001400691.1:c.-504-33486C>T (SNRPN) | NP_001387620.1:n.-504-33486C>T | |
| NM_001400692.1:c.-692-33486C>T (SNRPN) | NP_001387621.1:n.-692-33486C>T | |
| NM_001400693.1:c.-868C>T (SNRPN) | NP_001387622.1:n.-868C>T | |
| NM_001400694.1:c.-700C>T (SNRPN) | NP_001387623.1:n.-700C>T | |
| NM_001400695.1:c.-743C>T (SNRPN) | NP_001387624.1:n.-743C>T | |
| NM_001400696.1:c.-693C>T (SNRPN) | NP_001387625.1:n.-693C>T | |
| NM_001400697.1:c.-382C>T (SNRPN) | NP_001387626.1:n.-382C>T | |
| NM_001400698.1:c.-534C>T (SNRPN) | NP_001387627.1:n.-534C>T | |
| NM_001400701.1:c.-984C>T (SNRPN) | NP_001387630.1:n.-984C>T | |
| NM_001400702.1:c.-760C>T (SNRPN) | NP_001387631.1:n.-760C>T | |
| NM_001400703.1:c.-948C>T (SNRPN) | NP_001387632.1:n.-948C>T | |
| NM_001400704.1:c.-925C>T (SNRPN) | NP_001387633.1:n.-925C>T | |
| NM_001400706.1:c.-700C>T (SNRPN) | NP_001387635.1:n.-700C>T | |
| NM_001400708.1:c.-853C>T (SNRPN) | NP_001387637.1:n.-853C>T | |
| NM_001400710.1:c.-873C>T (SNRPN) | NP_001387639.1:n.-873C>T | |
| NM_001400712.1:c.-1316C>T (SNRPN) | NP_001387641.1:n.-1316C>T | |
| NM_001400713.1:c.-757C>T (SNRPN) | NP_001387642.1:n.-757C>T | |
| NM_001400715.1:c.-685C>T (SNRPN) | NP_001387644.1:n.-685C>T | |
| NM_001400716.1:c.-621+29809C>T (SNRPN) | NP_001387645.1:n.-621+29809C>T | |
| NM_001400717.1:c.-571C>T (SNRPN) | NP_001387646.1:n.-571C>T | |
| NM_001400718.1:c.-636+29809C>T (SNRPN) | NP_001387647.1:n.-636+29809C>T | |
| NM_001400719.1:c.-505+29809C>T (SNRPN) | NP_001387648.1:n.-505+29809C>T | |
| NM_001400720.1:c.-449C>T (SNRPN) | NP_001387649.1:n.-449C>T | |
| NM_001400721.1:c.-455C>T (SNRPN) | NP_001387650.1:n.-455C>T | |
| NM_001400722.1:c.-888C>T (SNRPN) | NP_001387651.1:n.-888C>T | |
| NM_001400723.1:c.-569C>T (SNRPN) | NP_001387652.1:n.-569C>T | |
| NM_001400724.1:c.-743C>T (SNRPN) | NP_001387653.1:n.-743C>T | |
| NM_001400735.1:c.-391+56620C>T (SNRPN) | NP_001387664.1:n.-391+56620C>T | |
| NM_001400736.1:c.-455C>T (SNRPN) | NP_001387665.1:n.-455C>T | |
| NM_001400737.1:c.-418C>T (SNRPN) | NP_001387666.1:n.-418C>T | |
| NM_001400738.1:c.-1396C>T (SNRPN) | NP_001387667.1:n.-1396C>T | |
| NM_001400739.1:c.-1000C>T (SNRPN) | NP_001387668.1:n.-1000C>T | |
| NM_001400740.1:c.-1044C>T (SNRPN) | NP_001387669.1:n.-1044C>T | |
| NM_001400741.1:c.-758C>T (SNRPN) | NP_001387670.1:n.-758C>T | |
| NM_001400742.1:c.-812C>T (SNRPN) | NP_001387671.1:n.-812C>T | |
| NM_001400743.1:c.-700C>T (SNRPN) | NP_001387672.1:n.-700C>T | |
| NM_001400744.1:c.-517C>T (SNRPN) | NP_001387673.1:n.-517C>T | |
| NM_001400745.1:c.-1280C>T (SNRPN) | NP_001387674.1:n.-1280C>T | |
| NM_001400746.1:c.-580+29809C>T (SNRPN) | NP_001387675.1:n.-580+29809C>T | |
| NM_001400747.1:c.-609C>T (SNRPN) | NP_001387676.1:n.-609C>T | |
| NM_001400748.1:c.-758C>T (SNRPN) | NP_001387677.1:n.-758C>T | |
| NM_001400753.1:c.-905C>T (SNRPN) | NP_001387682.1:n.-905C>T | |
| NM_001400754.1:c.-516C>T (SNRPN) | NP_001387683.1:n.-516C>T | |
| NM_001400755.1:c.-832C>T (SNRPN) | NP_001387684.1:n.-832C>T | |
| NM_001400756.1:c.-493C>T (SNRPN) | NP_001387685.1:n.-493C>T | |
| NM_001400757.1:c.-816C>T (SNRPN) | NP_001387686.1:n.-816C>T | |
| NM_001400758.1:c.-1027C>T (SNRPN) | NP_001387687.1:n.-1027C>T | |
| NM_001400759.1:c.-461C>T (SNRPN) | NP_001387688.1:n.-461C>T |