Linked Data
dbSNP Id:
rs1391516
gnomAD v2:
15-25107083-G-A
gnomAD v3:
15-24861936-G-A
gnomAD v4:
15-24861936-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.24861936G>A , CM000677.2:g.24861936G>A | GRCh38 |
| NC_000015.9:g.25107083G>A , CM000677.1:g.25107083G>A | GRCh37 |
| NC_000015.8:g.22658176G>A | NCBI36 |
| NG_012958.1:g.43290G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642807.1:c.-766-24580G>A (SNRPN) | ENSP00000495345.1:n.-766-24580G>A | |
| ENST00000645002.1:c.-877-24580G>A (SNRPN) | ENSP00000494831.1:n.-877-24580G>A | |
| ENST00000400097.5:c.-579+5220G>A (SNRPN) | ENSP00000382969.1:n.-579+5220G>A | |
| ENST00000400098.6:n.188-24580G>A (SNRPN) | ||
| ENST00000400100.5:c.-578-24580G>A (SNRPN) | ENSP00000382972.1:n.-578-24580G>A | |
| ENST00000553597.5:n.116+5220G>A (SNRPN) | ||
| NM_022805.2:c.-579+5220G>A (SNRPN) | NP_073716.1:n.-579+5220G>A | |
| NM_022806.2:c.-578-24580G>A (SNRPN) | NP_073717.1:n.-578-24580G>A | |
| NM_022807.2:c.-578-24580G>A (SNRPN) | NP_073718.1:n.-578-24580G>A | |
| NM_022808.2:c.-578-24580G>A (SNRPN) | NP_073719.1:n.-578-24580G>A | |
| NM_001349454.1:c.-802+5220G>A (SNRPN) | NP_001336383.1:n.-802+5220G>A | |
| NM_001349455.1:c.-746-24580G>A (SNRPN) | NP_001336384.1:n.-746-24580G>A | |
| NM_001349456.1:c.-653-24580G>A (SNRPN) | NP_001336385.1:n.-653-24580G>A | |
| NM_001349457.1:c.-746-24580G>A (SNRPN) | NP_001336386.1:n.-746-24580G>A | |
| NM_001349458.1:c.-578-24580G>A (SNRPN) | NP_001336387.1:n.-578-24580G>A | |
| NM_001349459.1:c.-505+32031G>A (SNRPN) | NP_001336388.1:n.-505+32031G>A | |
| NM_001349460.1:c.-821-24580G>A (SNRPN) | NP_001336389.1:n.-821-24580G>A | |
| NM_001349461.1:c.-654+5220G>A (SNRPN) | NP_001336390.1:n.-654+5220G>A | |
| NM_001349462.1:c.-747+5220G>A (SNRPN) | NP_001336391.1:n.-747+5220G>A | |
| NM_022805.4:c.-579+5220G>A (SNRPN) | NP_073716.1:n.-579+5220G>A | |
| NM_022806.4:c.-578-24580G>A (SNRPN) | NP_073717.1:n.-578-24580G>A | |
| NM_022807.4:c.-578-24580G>A (SNRPN) | NP_073718.1:n.-578-24580G>A | |
| NM_022808.4:c.-578-24580G>A (SNRPN) | NP_073719.1:n.-578-24580G>A | |
| NR_146177.1:n.325-24580G>A (SNHG14) | ||
| NM_001349454.2:c.-802+5220G>A (SNRPN) | NP_001336383.1:n.-802+5220G>A | |
| NM_001349455.2:c.-746-24580G>A (SNRPN) | NP_001336384.1:n.-746-24580G>A | |
| NM_001349456.2:c.-653-24580G>A (SNRPN) | NP_001336385.1:n.-653-24580G>A | |
| NM_001349457.2:c.-746-24580G>A (SNRPN) | NP_001336386.1:n.-746-24580G>A | |
| NM_001349458.2:c.-578-24580G>A (SNRPN) | NP_001336387.1:n.-578-24580G>A | |
| NM_001349459.2:c.-505+32031G>A (SNRPN) | NP_001336388.1:n.-505+32031G>A | |
| NM_001349460.2:c.-821-24580G>A (SNRPN) | NP_001336389.1:n.-821-24580G>A | |
| NM_001349461.2:c.-654+5220G>A (SNRPN) | NP_001336390.1:n.-654+5220G>A | |
| NM_001349462.2:c.-747+5220G>A (SNRPN) | NP_001336391.1:n.-747+5220G>A | |
| NM_001378251.1:c.-811-24580G>A (SNRPN) | NP_001365180.1:n.-811-24580G>A | |
| NM_022805.5:c.-579+5220G>A (SNRPN) | NP_073716.1:n.-579+5220G>A | |
| NM_022806.5:c.-578-24580G>A (SNRPN) | NP_073717.1:n.-578-24580G>A | |
| NM_022807.5:c.-578-24580G>A (SNRPN) | NP_073718.1:n.-578-24580G>A | |
| NM_022808.5:c.-578-24580G>A (SNRPN) | NP_073719.1:n.-578-24580G>A | |
| NM_001400634.1:c.-522+38113G>A (SNRPN) | NP_001387563.1:n.-522+38113G>A | |
| NM_001400635.1:c.-752-24580G>A (SNRPN) | NP_001387564.1:n.-752-24580G>A | |
| NM_001400636.1:c.-561-24580G>A (SNRPN) | NP_001387565.1:n.-561-24580G>A | |
| NM_001400637.1:c.-578-24580G>A (SNRPN) | NP_001387566.1:n.-578-24580G>A | |
| NM_001400638.1:c.-742-24580G>A (SNRPN) | NP_001387567.1:n.-742-24580G>A | |
| NM_001400639.1:c.-694-24580G>A (SNRPN) | NP_001387568.1:n.-694-24580G>A | |
| NM_001400640.1:c.-1036-24580G>A (SNRPN) | NP_001387569.1:n.-1036-24580G>A | |
| NM_001400641.1:c.-862-24580G>A (SNRPN) | NP_001387570.1:n.-862-24580G>A | |
| NM_001400643.1:c.-862-24580G>A (SNRPN) | NP_001387572.1:n.-862-24580G>A | |
| NM_001400644.1:c.-784-24580G>A (SNRPN) | NP_001387573.1:n.-784-24580G>A | |
| NM_001400646.1:c.-825-24580G>A (SNRPN) | NP_001387575.1:n.-825-24580G>A | |
| NM_001400647.1:c.-694-24580G>A (SNRPN) | NP_001387576.1:n.-694-24580G>A | |
| NM_001400649.1:c.-709-24580G>A (SNRPN) | NP_001387578.1:n.-709-24580G>A | |
| NM_001400650.1:c.-391+38113G>A (SNRPN) | NP_001387579.1:n.-391+38113G>A | |
| NM_001400652.1:c.-865-24580G>A (SNRPN) | NP_001387581.1:n.-865-24580G>A | |
| NM_001400683.1:c.-769-24580G>A (SNRPN) | NP_001387612.1:n.-769-24580G>A | |
| NM_001400684.1:c.-766-24580G>A (SNRPN) | NP_001387613.1:n.-766-24580G>A | |
| NM_001400685.1:c.-700-24580G>A (SNRPN) | NP_001387614.1:n.-700-24580G>A | |
| NM_001400686.1:c.-897-24580G>A (SNRPN) | NP_001387615.1:n.-897-24580G>A | |
| NM_001400687.1:c.-578-24580G>A (SNRPN) | NP_001387616.1:n.-578-24580G>A | |
| NM_001400688.1:c.-578-24580G>A (SNRPN) | NP_001387617.1:n.-578-24580G>A | |
| NM_001400689.1:c.-653-24580G>A (SNRPN) | NP_001387618.1:n.-653-24580G>A | |
| NM_001400690.1:c.-934-24580G>A (SNRPN) | NP_001387619.1:n.-934-24580G>A | |
| NM_001400691.1:c.-505+38113G>A (SNRPN) | NP_001387620.1:n.-505+38113G>A | |
| NM_001400692.1:c.-693+32031G>A (SNRPN) | NP_001387621.1:n.-693+32031G>A | |
| NM_001400693.1:c.-877-24580G>A (SNRPN) | NP_001387622.1:n.-877-24580G>A | |
| NM_001400694.1:c.-709-24580G>A (SNRPN) | NP_001387623.1:n.-709-24580G>A | |
| NM_001400695.1:c.-752-24580G>A (SNRPN) | NP_001387624.1:n.-752-24580G>A | |
| NM_001400696.1:c.-702-24580G>A (SNRPN) | NP_001387625.1:n.-702-24580G>A | |
| NM_001400697.1:c.-391-24580G>A (SNRPN) | NP_001387626.1:n.-391-24580G>A | |
| NM_001400698.1:c.-543-24580G>A (SNRPN) | NP_001387627.1:n.-543-24580G>A | |
| NM_001400701.1:c.-994+5220G>A (SNRPN) | NP_001387630.1:n.-994+5220G>A | |
| NM_001400702.1:c.-770+5220G>A (SNRPN) | NP_001387631.1:n.-770+5220G>A | |
| NM_001400703.1:c.-958+5220G>A (SNRPN) | NP_001387632.1:n.-958+5220G>A | |
| NM_001400704.1:c.-935+5220G>A (SNRPN) | NP_001387633.1:n.-935+5220G>A | |
| NM_001400706.1:c.-710+5220G>A (SNRPN) | NP_001387635.1:n.-710+5220G>A | |
| NM_001400708.1:c.-863+5220G>A (SNRPN) | NP_001387637.1:n.-863+5220G>A | |
| NM_001400710.1:c.-883+5220G>A (SNRPN) | NP_001387639.1:n.-883+5220G>A | |
| NM_001400712.1:c.-1326+5220G>A (SNRPN) | NP_001387641.1:n.-1326+5220G>A | |
| NM_001400713.1:c.-767+5220G>A (SNRPN) | NP_001387642.1:n.-767+5220G>A | |
| NM_001400715.1:c.-695+5220G>A (SNRPN) | NP_001387644.1:n.-695+5220G>A | |
| NM_001400716.1:c.-621+5220G>A (SNRPN) | NP_001387645.1:n.-621+5220G>A | |
| NM_001400717.1:c.-581+5220G>A (SNRPN) | NP_001387646.1:n.-581+5220G>A | |
| NM_001400718.1:c.-636+5220G>A (SNRPN) | NP_001387647.1:n.-636+5220G>A | |
| NM_001400719.1:c.-505+5220G>A (SNRPN) | NP_001387648.1:n.-505+5220G>A | |
| NM_001400720.1:c.-459+5220G>A (SNRPN) | NP_001387649.1:n.-459+5220G>A | |
| NM_001400721.1:c.-465+5220G>A (SNRPN) | NP_001387650.1:n.-465+5220G>A | |
| NM_001400722.1:c.-898+5220G>A (SNRPN) | NP_001387651.1:n.-898+5220G>A | |
| NM_001400735.1:c.-391+32031G>A (SNRPN) | NP_001387664.1:n.-391+32031G>A | |
| NM_001400736.1:c.-464-24580G>A (SNRPN) | NP_001387665.1:n.-464-24580G>A | |
| NM_001400737.1:c.-427-24580G>A (SNRPN) | NP_001387666.1:n.-427-24580G>A | |
| NM_001400738.1:c.-1405-24580G>A (SNRPN) | NP_001387667.1:n.-1405-24580G>A | |
| NM_001400739.1:c.-1009-24580G>A (SNRPN) | NP_001387668.1:n.-1009-24580G>A | |
| NM_001400740.1:c.-1053-24580G>A (SNRPN) | NP_001387669.1:n.-1053-24580G>A | |
| NM_001400741.1:c.-767-24580G>A (SNRPN) | NP_001387670.1:n.-767-24580G>A | |
| NM_001400742.1:c.-821-24580G>A (SNRPN) | NP_001387671.1:n.-821-24580G>A | |
| NM_001400743.1:c.-709-24580G>A (SNRPN) | NP_001387672.1:n.-709-24580G>A | |
| NM_001400744.1:c.-526-24580G>A (SNRPN) | NP_001387673.1:n.-526-24580G>A | |
| NM_001400745.1:c.-1290+5220G>A (SNRPN) | NP_001387674.1:n.-1290+5220G>A | |
| NM_001400746.1:c.-580+5220G>A (SNRPN) | NP_001387675.1:n.-580+5220G>A | |
| NM_001400747.1:c.-619+5220G>A (SNRPN) | NP_001387676.1:n.-619+5220G>A | |
| NM_001400748.1:c.-768+5220G>A (SNRPN) | NP_001387677.1:n.-768+5220G>A | |
| NM_001400753.1:c.-915+5220G>A (SNRPN) | NP_001387682.1:n.-915+5220G>A | |
| NM_001400754.1:c.-526+5220G>A (SNRPN) | NP_001387683.1:n.-526+5220G>A | |
| NM_001400755.1:c.-842+5220G>A (SNRPN) | NP_001387684.1:n.-842+5220G>A | |
| NM_001400756.1:c.-503+5220G>A (SNRPN) | NP_001387685.1:n.-503+5220G>A | |
| NM_001400757.1:c.-826+5220G>A (SNRPN) | NP_001387686.1:n.-826+5220G>A | |
| NM_001400758.1:c.-1037+5220G>A (SNRPN) | NP_001387687.1:n.-1037+5220G>A | |
| NM_001400759.1:c.-471+5220G>A (SNRPN) | NP_001387688.1:n.-471+5220G>A |