Linked Data
dbSNP Id:
rs2030062
gnomAD v2:
15-25133986-A-G
gnomAD v3:
15-24888839-A-G
gnomAD v4:
15-24888839-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.24888839A>G , CM000677.2:g.24888839A>G | GRCh38 |
| NC_000015.9:g.25133986A>G , CM000677.1:g.25133986A>G | GRCh37 |
| NC_000015.8:g.22685079A>G | NCBI36 |
| NG_012958.1:g.70193A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642807.1:c.-693+2250A>G (SNRPN) | ENSP00000495345.1:n.-693+2250A>G | |
| ENST00000645002.1:c.-804+2250A>G (SNRPN) | ENSP00000494831.1:n.-804+2250A>G | |
| ENST00000400097.5:c.-505+2250A>G (SNRPN) | ENSP00000382969.1:n.-505+2250A>G | |
| ENST00000400098.6:n.261+2250A>G (SNRPN) | ||
| ENST00000400100.5:c.-505+2250A>G (SNRPN) | ENSP00000382972.1:n.-505+2250A>G | |
| ENST00000553597.5:n.190+2250A>G (SNRPN) | ||
| NM_022805.2:c.-505+2250A>G (SNRPN) | NP_073716.1:n.-505+2250A>G | |
| NM_022806.2:c.-505+2250A>G (SNRPN) | NP_073717.1:n.-505+2250A>G | |
| NM_022807.2:c.-505+2250A>G (SNRPN) | NP_073718.1:n.-505+2250A>G | |
| NM_022808.2:c.-505+2250A>G (SNRPN) | NP_073719.1:n.-505+2250A>G | |
| NM_001349454.1:c.-728+2250A>G (SNRPN) | NP_001336383.1:n.-728+2250A>G | |
| NM_001349455.1:c.-673+2250A>G (SNRPN) | NP_001336384.1:n.-673+2250A>G | |
| NM_001349456.1:c.-580+2250A>G (SNRPN) | NP_001336385.1:n.-580+2250A>G | |
| NM_001349457.1:c.-673+2250A>G (SNRPN) | NP_001336386.1:n.-673+2250A>G | |
| NM_001349458.1:c.-505+2250A>G (SNRPN) | NP_001336387.1:n.-505+2250A>G | |
| NM_001349459.1:c.-504-31172A>G (SNRPN) | NP_001336388.1:n.-504-31172A>G | |
| NM_001349460.1:c.-748+2250A>G (SNRPN) | NP_001336389.1:n.-748+2250A>G | |
| NM_001349461.1:c.-580+2250A>G (SNRPN) | NP_001336390.1:n.-580+2250A>G | |
| NM_001349462.1:c.-673+2250A>G (SNRPN) | NP_001336391.1:n.-673+2250A>G | |
| NM_022805.4:c.-505+2250A>G (SNRPN) | NP_073716.1:n.-505+2250A>G | |
| NM_022806.4:c.-505+2250A>G (SNRPN) | NP_073717.1:n.-505+2250A>G | |
| NM_022807.4:c.-505+2250A>G (SNRPN) | NP_073718.1:n.-505+2250A>G | |
| NM_022808.4:c.-505+2250A>G (SNRPN) | NP_073719.1:n.-505+2250A>G | |
| NR_146177.1:n.398+2250A>G (SNHG14) | ||
| NM_001349454.2:c.-728+2250A>G (SNRPN) | NP_001336383.1:n.-728+2250A>G | |
| NM_001349455.2:c.-673+2250A>G (SNRPN) | NP_001336384.1:n.-673+2250A>G | |
| NM_001349456.2:c.-580+2250A>G (SNRPN) | NP_001336385.1:n.-580+2250A>G | |
| NM_001349457.2:c.-673+2250A>G (SNRPN) | NP_001336386.1:n.-673+2250A>G | |
| NM_001349458.2:c.-505+2250A>G (SNRPN) | NP_001336387.1:n.-505+2250A>G | |
| NM_001349459.2:c.-504-31172A>G (SNRPN) | NP_001336388.1:n.-504-31172A>G | |
| NM_001349460.2:c.-748+2250A>G (SNRPN) | NP_001336389.1:n.-748+2250A>G | |
| NM_001349461.2:c.-580+2250A>G (SNRPN) | NP_001336390.1:n.-580+2250A>G | |
| NM_001349462.2:c.-673+2250A>G (SNRPN) | NP_001336391.1:n.-673+2250A>G | |
| NM_001378251.1:c.-738+2250A>G (SNRPN) | NP_001365180.1:n.-738+2250A>G | |
| NM_022805.5:c.-505+2250A>G (SNRPN) | NP_073716.1:n.-505+2250A>G | |
| NM_022806.5:c.-505+2250A>G (SNRPN) | NP_073717.1:n.-505+2250A>G | |
| NM_022807.5:c.-505+2250A>G (SNRPN) | NP_073718.1:n.-505+2250A>G | |
| NM_022808.5:c.-505+2250A>G (SNRPN) | NP_073719.1:n.-505+2250A>G | |
| NM_001400634.1:c.-521-23524A>G (SNRPN) | NP_001387563.1:n.-521-23524A>G | |
| NM_001400635.1:c.-679+2250A>G (SNRPN) | NP_001387564.1:n.-679+2250A>G | |
| NM_001400636.1:c.-488+2250A>G (SNRPN) | NP_001387565.1:n.-488+2250A>G | |
| NM_001400637.1:c.-505+2250A>G (SNRPN) | NP_001387566.1:n.-505+2250A>G | |
| NM_001400638.1:c.-669+2250A>G (SNRPN) | NP_001387567.1:n.-669+2250A>G | |
| NM_001400639.1:c.-621+2250A>G (SNRPN) | NP_001387568.1:n.-621+2250A>G | |
| NM_001400640.1:c.-963+2250A>G (SNRPN) | NP_001387569.1:n.-963+2250A>G | |
| NM_001400641.1:c.-789+2250A>G (SNRPN) | NP_001387570.1:n.-789+2250A>G | |
| NM_001400643.1:c.-789+2250A>G (SNRPN) | NP_001387572.1:n.-789+2250A>G | |
| NM_001400644.1:c.-711+2250A>G (SNRPN) | NP_001387573.1:n.-711+2250A>G | |
| NM_001400646.1:c.-752+2250A>G (SNRPN) | NP_001387575.1:n.-752+2250A>G | |
| NM_001400647.1:c.-621+2250A>G (SNRPN) | NP_001387576.1:n.-621+2250A>G | |
| NM_001400649.1:c.-636+2250A>G (SNRPN) | NP_001387578.1:n.-636+2250A>G | |
| NM_001400650.1:c.-391+65016A>G (SNRPN) | NP_001387579.1:n.-391+65016A>G | |
| NM_001400652.1:c.-792+2250A>G (SNRPN) | NP_001387581.1:n.-792+2250A>G | |
| NM_001400683.1:c.-696+2250A>G (SNRPN) | NP_001387612.1:n.-696+2250A>G | |
| NM_001400684.1:c.-693+2250A>G (SNRPN) | NP_001387613.1:n.-693+2250A>G | |
| NM_001400685.1:c.-505+588A>G (SNRPN) | NP_001387614.1:n.-505+588A>G | |
| NM_001400686.1:c.-824+2250A>G (SNRPN) | NP_001387615.1:n.-824+2250A>G | |
| NM_001400687.1:c.-505+2250A>G (SNRPN) | NP_001387616.1:n.-505+2250A>G | |
| NM_001400688.1:c.-505+2250A>G (SNRPN) | NP_001387617.1:n.-505+2250A>G | |
| NM_001400689.1:c.-580+2250A>G (SNRPN) | NP_001387618.1:n.-580+2250A>G | |
| NM_001400690.1:c.-861+2250A>G (SNRPN) | NP_001387619.1:n.-861+2250A>G | |
| NM_001400691.1:c.-504-31172A>G (SNRPN) | NP_001387620.1:n.-504-31172A>G | |
| NM_001400692.1:c.-692-31172A>G (SNRPN) | NP_001387621.1:n.-692-31172A>G | |
| NM_001400693.1:c.-804+2250A>G (SNRPN) | NP_001387622.1:n.-804+2250A>G | |
| NM_001400694.1:c.-636+2250A>G (SNRPN) | NP_001387623.1:n.-636+2250A>G | |
| NM_001400695.1:c.-679+2250A>G (SNRPN) | NP_001387624.1:n.-679+2250A>G | |
| NM_001400696.1:c.-629+2250A>G (SNRPN) | NP_001387625.1:n.-629+2250A>G | |
| NM_001400697.1:c.-318+2250A>G (SNRPN) | NP_001387626.1:n.-318+2250A>G | |
| NM_001400698.1:c.-470+2250A>G (SNRPN) | NP_001387627.1:n.-470+2250A>G | |
| NM_001400701.1:c.-920+2250A>G (SNRPN) | NP_001387630.1:n.-920+2250A>G | |
| NM_001400702.1:c.-696+2250A>G (SNRPN) | NP_001387631.1:n.-696+2250A>G | |
| NM_001400703.1:c.-884+2250A>G (SNRPN) | NP_001387632.1:n.-884+2250A>G | |
| NM_001400704.1:c.-861+2250A>G (SNRPN) | NP_001387633.1:n.-861+2250A>G | |
| NM_001400706.1:c.-636+2250A>G (SNRPN) | NP_001387635.1:n.-636+2250A>G | |
| NM_001400708.1:c.-789+2250A>G (SNRPN) | NP_001387637.1:n.-789+2250A>G | |
| NM_001400710.1:c.-809+2250A>G (SNRPN) | NP_001387639.1:n.-809+2250A>G | |
| NM_001400712.1:c.-1252+2250A>G (SNRPN) | NP_001387641.1:n.-1252+2250A>G | |
| NM_001400713.1:c.-693+2250A>G (SNRPN) | NP_001387642.1:n.-693+2250A>G | |
| NM_001400715.1:c.-621+2250A>G (SNRPN) | NP_001387644.1:n.-621+2250A>G | |
| NM_001400716.1:c.-620-31172A>G (SNRPN) | NP_001387645.1:n.-620-31172A>G | |
| NM_001400717.1:c.-507+2250A>G (SNRPN) | NP_001387646.1:n.-507+2250A>G | |
| NM_001400718.1:c.-635-31172A>G (SNRPN) | NP_001387647.1:n.-635-31172A>G | |
| NM_001400719.1:c.-504-31172A>G (SNRPN) | NP_001387648.1:n.-504-31172A>G | |
| NM_001400720.1:c.-385+2250A>G (SNRPN) | NP_001387649.1:n.-385+2250A>G | |
| NM_001400721.1:c.-391+2250A>G (SNRPN) | NP_001387650.1:n.-391+2250A>G | |
| NM_001400722.1:c.-824+2250A>G (SNRPN) | NP_001387651.1:n.-824+2250A>G | |
| NM_001400723.1:c.-505+2250A>G (SNRPN) | NP_001387652.1:n.-505+2250A>G | |
| NM_001400724.1:c.-679+2250A>G (SNRPN) | NP_001387653.1:n.-679+2250A>G | |
| NM_001400735.1:c.-391+58934A>G (SNRPN) | NP_001387664.1:n.-391+58934A>G | |
| NM_001400736.1:c.-391+2250A>G (SNRPN) | NP_001387665.1:n.-391+2250A>G | |
| NM_001400737.1:c.-354+2250A>G (SNRPN) | NP_001387666.1:n.-354+2250A>G | |
| NM_001400738.1:c.-622A>G (SNRPN) | NP_001387667.1:n.-622A>G | |
| NM_001400739.1:c.-936+2250A>G (SNRPN) | NP_001387668.1:n.-936+2250A>G | |
| NM_001400740.1:c.-980+2250A>G (SNRPN) | NP_001387669.1:n.-980+2250A>G | |
| NM_001400741.1:c.-694+2250A>G (SNRPN) | NP_001387670.1:n.-694+2250A>G | |
| NM_001400742.1:c.-748+2250A>G (SNRPN) | NP_001387671.1:n.-748+2250A>G | |
| NM_001400743.1:c.-636+2250A>G (SNRPN) | NP_001387672.1:n.-636+2250A>G | |
| NM_001400744.1:c.-453+2250A>G (SNRPN) | NP_001387673.1:n.-453+2250A>G | |
| NM_001400745.1:c.-506A>G (SNRPN) | NP_001387674.1:n.-506A>G | |
| NM_001400746.1:c.-579-31172A>G (SNRPN) | NP_001387675.1:n.-579-31172A>G | |
| NM_001400747.1:c.-545+2250A>G (SNRPN) | NP_001387676.1:n.-545+2250A>G | |
| NM_001400748.1:c.-694+2250A>G (SNRPN) | NP_001387677.1:n.-694+2250A>G | |
| NM_001400753.1:c.-841+2250A>G (SNRPN) | NP_001387682.1:n.-841+2250A>G | |
| NM_001400754.1:c.-452+2250A>G (SNRPN) | NP_001387683.1:n.-452+2250A>G | |
| NM_001400755.1:c.-768+2250A>G (SNRPN) | NP_001387684.1:n.-768+2250A>G | |
| NM_001400756.1:c.-429+2250A>G (SNRPN) | NP_001387685.1:n.-429+2250A>G | |
| NM_001400757.1:c.-752+2250A>G (SNRPN) | NP_001387686.1:n.-752+2250A>G | |
| NM_001400758.1:c.-963+2250A>G (SNRPN) | NP_001387687.1:n.-963+2250A>G | |
| NM_001400759.1:c.-414+2267A>G (SNRPN) | NP_001387688.1:n.-414+2267A>G |