Linked Data
ClinVar Variation Id:
315430
ClinVar RCV Id:
RCV000324112
dbSNP Id:
rs886051012
gnomAD v3:
15-24823718-C-A
gnomAD v4:
15-24823718-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.24823718C>A , CM000677.2:g.24823718C>A | GRCh38 |
| NC_000015.9:g.25068865C>A , CM000677.1:g.25068865C>A | GRCh37 |
| NC_000015.8:g.22619958C>A | NCBI36 |
| NG_012958.1:g.5072C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400098.6:n.82C>A (SNRPN) | ||
| ENST00000400100.5:c.-819C>A (SNRPN) | ENSP00000382972.1:n.-819C>A | |
| NM_022806.2:c.-684C>A (SNRPN) | NP_073717.1:n.-684C>A | |
| NM_022807.2:c.-819C>A (SNRPN) | NP_073718.1:n.-819C>A | |
| NM_022808.2:c.-711C>A (SNRPN) | NP_073719.1:n.-711C>A | |
| NM_001349455.1:c.-852C>A (SNRPN) | NP_001336384.1:n.-852C>A | |
| NM_001349456.1:c.-759C>A (SNRPN) | NP_001336385.1:n.-759C>A | |
| NM_001349457.1:c.-960C>A (SNRPN) | NP_001336386.1:n.-960C>A | |
| NM_001349458.1:c.-792C>A (SNRPN) | NP_001336387.1:n.-792C>A | |
| NM_001349459.1:c.-718C>A (SNRPN) | NP_001336388.1:n.-718C>A | |
| NM_001349460.1:c.-1035C>A (SNRPN) | NP_001336389.1:n.-1035C>A | |
| NM_022806.4:c.-684C>A (SNRPN) | NP_073717.1:n.-684C>A | |
| NM_022807.4:c.-819C>A (SNRPN) | NP_073718.1:n.-819C>A | |
| NM_022808.4:c.-711C>A (SNRPN) | NP_073719.1:n.-711C>A | |
| NR_146177.1:n.111C>A (SNHG14) | ||
| NM_001349455.2:c.-852C>A (SNRPN) | NP_001336384.1:n.-852C>A | |
| NM_001349456.2:c.-759C>A (SNRPN) | NP_001336385.1:n.-759C>A | |
| NM_001349457.2:c.-960C>A (SNRPN) | NP_001336386.1:n.-960C>A | |
| NM_001349458.2:c.-792C>A (SNRPN) | NP_001336387.1:n.-792C>A | |
| NM_001349459.2:c.-718C>A (SNRPN) | NP_001336388.1:n.-718C>A | |
| NM_001349460.2:c.-1035C>A (SNRPN) | NP_001336389.1:n.-1035C>A | |
| NM_001378251.1:c.-1025C>A (SNRPN) | NP_001365180.1:n.-1025C>A | |
| NM_022806.5:c.-684C>A (SNRPN) | NP_073717.1:n.-684C>A | |
| NM_022807.5:c.-819C>A (SNRPN) | NP_073718.1:n.-819C>A | |
| NM_022808.5:c.-711C>A (SNRPN) | NP_073719.1:n.-711C>A | |
| NM_001400634.1:c.-627C>A (SNRPN) | NP_001387563.1:n.-627C>A | |
| NM_001400635.1:c.-966C>A (SNRPN) | NP_001387564.1:n.-966C>A | |
| NM_001400636.1:c.-944C>A (SNRPN) | NP_001387565.1:n.-944C>A | |
| NM_001400637.1:c.-961C>A (SNRPN) | NP_001387566.1:n.-961C>A | |
| NM_001400638.1:c.-848C>A (SNRPN) | NP_001387567.1:n.-848C>A | |
| NM_001400639.1:c.-800C>A (SNRPN) | NP_001387568.1:n.-800C>A | |
| NM_001400640.1:c.-1250C>A (SNRPN) | NP_001387569.1:n.-1250C>A | |
| NM_001400641.1:c.-1076C>A (SNRPN) | NP_001387570.1:n.-1076C>A | |
| NM_001400643.1:c.-968C>A (SNRPN) | NP_001387572.1:n.-968C>A | |
| NM_001400644.1:c.-890C>A (SNRPN) | NP_001387573.1:n.-890C>A | |
| NM_001400646.1:c.-931C>A (SNRPN) | NP_001387575.1:n.-931C>A | |
| NM_001400647.1:c.-908C>A (SNRPN) | NP_001387576.1:n.-908C>A | |
| NM_001400649.1:c.-923C>A (SNRPN) | NP_001387578.1:n.-923C>A | |
| NM_001400650.1:c.-496C>A (SNRPN) | NP_001387579.1:n.-496C>A | |
| NM_001400652.1:c.-1079C>A (SNRPN) | NP_001387581.1:n.-1079C>A | |
| NM_001400683.1:c.-875C>A (SNRPN) | NP_001387612.1:n.-875C>A | |
| NM_001400684.1:c.-872C>A (SNRPN) | NP_001387613.1:n.-872C>A | |
| NM_001400685.1:c.-806C>A (SNRPN) | NP_001387614.1:n.-806C>A | |
| NM_001400686.1:c.-1003C>A (SNRPN) | NP_001387615.1:n.-1003C>A | |
| NM_001400687.1:c.-853C>A (SNRPN) | NP_001387616.1:n.-853C>A | |
| NM_001400688.1:c.-759C>A (SNRPN) | NP_001387617.1:n.-759C>A | |
| NM_001400689.1:c.-867C>A (SNRPN) | NP_001387618.1:n.-867C>A | |
| NM_001400690.1:c.-1148C>A (SNRPN) | NP_001387619.1:n.-1148C>A | |
| NM_001400691.1:c.-610C>A (SNRPN) | NP_001387620.1:n.-610C>A | |
| NM_001400692.1:c.-906C>A (SNRPN) | NP_001387621.1:n.-906C>A | |
| NM_001400693.1:c.-983C>A (SNRPN) | NP_001387622.1:n.-983C>A | |
| NM_001400694.1:c.-815C>A (SNRPN) | NP_001387623.1:n.-815C>A | |
| NM_001400695.1:c.-858C>A (SNRPN) | NP_001387624.1:n.-858C>A | |
| NM_001400696.1:c.-808C>A (SNRPN) | NP_001387625.1:n.-808C>A | |
| NM_001400697.1:c.-497C>A (SNRPN) | NP_001387626.1:n.-497C>A | |
| NM_001400698.1:c.-649C>A (SNRPN) | NP_001387627.1:n.-649C>A | |
| NM_001400735.1:c.-604C>A (SNRPN) | NP_001387664.1:n.-604C>A | |
| NM_001400736.1:c.-570C>A (SNRPN) | NP_001387665.1:n.-570C>A | |
| NM_001400737.1:c.-533C>A (SNRPN) | NP_001387666.1:n.-533C>A | |
| NM_001400738.1:c.-1511C>A (SNRPN) | NP_001387667.1:n.-1511C>A | |
| NM_001400739.1:c.-1115C>A (SNRPN) | NP_001387668.1:n.-1115C>A | |
| NM_001400740.1:c.-1159C>A (SNRPN) | NP_001387669.1:n.-1159C>A | |
| NM_001400741.1:c.-873C>A (SNRPN) | NP_001387670.1:n.-873C>A | |
| NM_001400742.1:c.-927C>A (SNRPN) | NP_001387671.1:n.-927C>A | |
| NM_001400743.1:c.-890C>A (SNRPN) | NP_001387672.1:n.-890C>A | |
| NM_001400744.1:c.-632C>A (SNRPN) | NP_001387673.1:n.-632C>A |