Linked Data
ClinVar Variation Id:
157597
ClinVar RCV Id:
RCV000144932
RCV000218739
RCV000281545
RCV000284837
RCV000398464
RCV000416064
RCV000986925
RCV001083229
RCV001094589
RCV002415629
RCV004532638
dbSNP Id:
rs182650126
ExAC:
2:167136962 T / C
gnomAD v2:
2-167136962-T-C
gnomAD v3:
2-166280452-T-C
gnomAD v4:
2-166280452-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166280452T>C , CM000664.2:g.166280452T>C | GRCh38 |
| NC_000002.11:g.167136962T>C , CM000664.1:g.167136962T>C | GRCh37 |
| NC_000002.10:g.166845208T>C | NCBI36 |
| NG_012798.1:g.100536A>G , LRG_369:g.100536A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.2248A>G (SCN9A) | ENSP00000304748.7:p.Ile750Val | |
| ENST00000409435.6:c.2248A>G (SCN9A) | ENSP00000386330.2:p.Ile750Val | |
| ENST00000454569.6:c.2215A>G (SCN9A) | ENSP00000413212.2:p.Ile739Val | |
| ENST00000642356.2:c.2248A>G (SCN9A) MANE Select | ENSP00000495601.1:p.Ile750Val | |
| ENST00000644316.1:c.2215A>G (SCN9A) | ENSP00000493939.1:p.Ile739Val | |
| ENST00000645907.1:c.2215A>G (SCN9A) | ENSP00000495983.1:p.Ile739Val | |
| ENST00000667201.2:c.1250A>G (SCN9A) | ||
| ENST00000303354.10:c.2248A>G (SCN9A) | ENSP00000304748.7:p.Ile750Val | |
| ENST00000409435.5:c.2248A>G (SCN9A) | ENSP00000386330.1:p.Ile750Val | |
| ENST00000409672.5:c.2215A>G (SCN9A) | ENSP00000386306.1:p.Ile739Val | |
| NM_002977.3:c.2215A>G , LRG_369t1:c.2215A>G (SCN9A) | NP_002968.1:p.Ile739Val | |
| NR_110260.1:n.1029+3205T>C (SCN1A-AS1) | ||
| XM_005246757.1:c.2248A>G (SCN9A) | XP_005246814.1:p.Ile750Val | |
| XM_011511616.1:c.2248A>G (SCN9A) | XP_011509918.1:p.Ile750Val | |
| XM_011511617.1:c.2248A>G (SCN9A) | XP_011509919.1:p.Ile750Val | |
| XM_011511618.1:c.2215A>G (SCN9A) | XP_011509920.1:p.Ile739Val | |
| XM_011511619.1:c.2248A>G (SCN9A) | XP_011509921.1:p.Ile750Val | |
| NM_001365536.1:c.2248A>G (SCN9A) MANE Select | NP_001352465.1:p.Ile750Val | |
| XM_011511616.3:c.2248A>G (SCN9A) | XP_011509918.1:p.Ile750Val | |
| XM_011511617.2:c.2248A>G (SCN9A) | XP_011509919.1:p.Ile750Val | |
| XM_011511618.2:c.2215A>G (SCN9A) | XP_011509920.1:p.Ile739Val | |
| XM_011511619.2:c.2248A>G (SCN9A) | XP_011509921.1:p.Ile750Val | |
| XM_017004668.1:c.1861A>G (SCN9A) | XP_016860157.1:p.Ile621Val | |
| XM_017004669.1:c.1504A>G (SCN9A) | XP_016860158.1:p.Ile502Val | |
| XR_001738886.1:n.2562A>G (SCN9A) |