Linked Data
ClinVar Variation Id:
315431
ClinVar RCV Id:
RCV000376376
dbSNP Id:
rs7170796
gnomAD v2:
15-25074959-T-C
gnomAD v3:
15-24829812-T-C
gnomAD v4:
15-24829812-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.24829812T>C , CM000677.2:g.24829812T>C | GRCh38 |
| NC_000015.9:g.25074959T>C , CM000677.1:g.25074959T>C | GRCh37 |
| NC_000015.8:g.22626052T>C | NCBI36 |
| NG_012958.1:g.11166T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642807.1:c.-860T>C (SNRPN) | ENSP00000495345.1:n.-860T>C | |
| ENST00000645002.1:c.-971T>C (SNRPN) | ENSP00000494831.1:n.-971T>C | |
| ENST00000400098.6:n.187+5989T>C (SNRPN) | ||
| ENST00000400100.5:c.-672T>C (SNRPN) | ENSP00000382972.1:n.-672T>C | |
| NM_022806.2:c.-579+5989T>C (SNRPN) | NP_073717.1:n.-579+5989T>C | |
| NM_022807.2:c.-672T>C (SNRPN) | NP_073718.1:n.-672T>C | |
| NM_022808.2:c.-579+5962T>C (SNRPN) | NP_073719.1:n.-579+5962T>C | |
| NM_001349455.1:c.-747+5989T>C (SNRPN) | NP_001336384.1:n.-747+5989T>C | |
| NM_001349456.1:c.-654+5989T>C (SNRPN) | NP_001336385.1:n.-654+5989T>C | |
| NM_001349457.1:c.-840T>C (SNRPN) | NP_001336386.1:n.-840T>C | |
| NM_001349458.1:c.-672T>C (SNRPN) | NP_001336387.1:n.-672T>C | |
| NM_001349459.1:c.-598T>C (SNRPN) | NP_001336388.1:n.-598T>C | |
| NM_001349460.1:c.-915T>C (SNRPN) | NP_001336389.1:n.-915T>C | |
| NM_022806.4:c.-579+5989T>C (SNRPN) | NP_073717.1:n.-579+5989T>C | |
| NM_022807.4:c.-672T>C (SNRPN) | NP_073718.1:n.-672T>C | |
| NM_022808.4:c.-579+5962T>C (SNRPN) | NP_073719.1:n.-579+5962T>C | |
| NR_146177.1:n.231T>C (SNHG14) | ||
| NM_001349455.2:c.-747+5989T>C (SNRPN) | NP_001336384.1:n.-747+5989T>C | |
| NM_001349456.2:c.-654+5989T>C (SNRPN) | NP_001336385.1:n.-654+5989T>C | |
| NM_001349457.2:c.-840T>C (SNRPN) | NP_001336386.1:n.-840T>C | |
| NM_001349458.2:c.-672T>C (SNRPN) | NP_001336387.1:n.-672T>C | |
| NM_001349459.2:c.-598T>C (SNRPN) | NP_001336388.1:n.-598T>C | |
| NM_001349460.2:c.-915T>C (SNRPN) | NP_001336389.1:n.-915T>C | |
| NM_001378251.1:c.-905T>C (SNRPN) | NP_001365180.1:n.-905T>C | |
| NM_022806.5:c.-579+5989T>C (SNRPN) | NP_073717.1:n.-579+5989T>C | |
| NM_022807.5:c.-672T>C (SNRPN) | NP_073718.1:n.-672T>C | |
| NM_022808.5:c.-579+5962T>C (SNRPN) | NP_073719.1:n.-579+5962T>C | |
| NM_001400634.1:c.-522+5989T>C (SNRPN) | NP_001387563.1:n.-522+5989T>C | |
| NM_001400635.1:c.-846T>C (SNRPN) | NP_001387564.1:n.-846T>C | |
| NM_001400636.1:c.-824T>C (SNRPN) | NP_001387565.1:n.-824T>C | |
| NM_001400637.1:c.-841T>C (SNRPN) | NP_001387566.1:n.-841T>C | |
| NM_001400638.1:c.-743+5989T>C (SNRPN) | NP_001387567.1:n.-743+5989T>C | |
| NM_001400639.1:c.-695+5989T>C (SNRPN) | NP_001387568.1:n.-695+5989T>C | |
| NM_001400640.1:c.-1130T>C (SNRPN) | NP_001387569.1:n.-1130T>C | |
| NM_001400641.1:c.-956T>C (SNRPN) | NP_001387570.1:n.-956T>C | |
| NM_001400643.1:c.-863+5989T>C (SNRPN) | NP_001387572.1:n.-863+5989T>C | |
| NM_001400644.1:c.-785+5989T>C (SNRPN) | NP_001387573.1:n.-785+5989T>C | |
| NM_001400646.1:c.-826+5989T>C (SNRPN) | NP_001387575.1:n.-826+5989T>C | |
| NM_001400647.1:c.-788T>C (SNRPN) | NP_001387576.1:n.-788T>C | |
| NM_001400649.1:c.-803T>C (SNRPN) | NP_001387578.1:n.-803T>C | |
| NM_001400650.1:c.-391+5989T>C (SNRPN) | NP_001387579.1:n.-391+5989T>C | |
| NM_001400652.1:c.-959T>C (SNRPN) | NP_001387581.1:n.-959T>C | |
| NM_001400683.1:c.-770+5989T>C (SNRPN) | NP_001387612.1:n.-770+5989T>C | |
| NM_001400684.1:c.-767+5989T>C (SNRPN) | NP_001387613.1:n.-767+5989T>C | |
| NM_001400685.1:c.-701+5989T>C (SNRPN) | NP_001387614.1:n.-701+5989T>C | |
| NM_001400686.1:c.-898+5989T>C (SNRPN) | NP_001387615.1:n.-898+5989T>C | |
| NM_001400687.1:c.-747-438T>C (SNRPN) | NP_001387616.1:n.-747-438T>C | |
| NM_001400688.1:c.-639T>C (SNRPN) | NP_001387617.1:n.-639T>C | |
| NM_001400689.1:c.-747T>C (SNRPN) | NP_001387618.1:n.-747T>C | |
| NM_001400690.1:c.-1028T>C (SNRPN) | NP_001387619.1:n.-1028T>C | |
| NM_001400691.1:c.-505+5989T>C (SNRPN) | NP_001387620.1:n.-505+5989T>C | |
| NM_001400692.1:c.-786T>C (SNRPN) | NP_001387621.1:n.-786T>C | |
| NM_001400693.1:c.-878+5989T>C (SNRPN) | NP_001387622.1:n.-878+5989T>C | |
| NM_001400694.1:c.-710+5989T>C (SNRPN) | NP_001387623.1:n.-710+5989T>C | |
| NM_001400695.1:c.-753+5989T>C (SNRPN) | NP_001387624.1:n.-753+5989T>C | |
| NM_001400696.1:c.-703+5989T>C (SNRPN) | NP_001387625.1:n.-703+5989T>C | |
| NM_001400697.1:c.-392+5989T>C (SNRPN) | NP_001387626.1:n.-392+5989T>C | |
| NM_001400698.1:c.-544+5989T>C (SNRPN) | NP_001387627.1:n.-544+5989T>C | |
| NM_001400735.1:c.-484T>C (SNRPN) | NP_001387664.1:n.-484T>C | |
| NM_001400736.1:c.-465+5989T>C (SNRPN) | NP_001387665.1:n.-465+5989T>C | |
| NM_001400737.1:c.-428+5989T>C (SNRPN) | NP_001387666.1:n.-428+5989T>C | |
| NM_001400738.1:c.-1406+5989T>C (SNRPN) | NP_001387667.1:n.-1406+5989T>C | |
| NM_001400739.1:c.-1010+5989T>C (SNRPN) | NP_001387668.1:n.-1010+5989T>C | |
| NM_001400740.1:c.-1054+5989T>C (SNRPN) | NP_001387669.1:n.-1054+5989T>C | |
| NM_001400741.1:c.-768+5989T>C (SNRPN) | NP_001387670.1:n.-768+5989T>C | |
| NM_001400742.1:c.-822+5989T>C (SNRPN) | NP_001387671.1:n.-822+5989T>C | |
| NM_001400743.1:c.-770T>C (SNRPN) | NP_001387672.1:n.-770T>C | |
| NM_001400744.1:c.-527+5989T>C (SNRPN) | NP_001387673.1:n.-527+5989T>C |