Linked Data
ClinVar Variation Id:
538458
ClinVar RCV Id:
RCV000647775
dbSNP Id:
rs201750475
ExAC:
2:167060893 G / C
gnomAD v2:
2-167060893-G-C
gnomAD v3:
2-166204383-G-C
gnomAD v4:
2-166204383-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166204383G>C , CM000664.2:g.166204383G>C | GRCh38 |
| NC_000002.11:g.167060893G>C , CM000664.1:g.167060893G>C | GRCh37 |
| NC_000002.10:g.166769139G>C | NCBI36 |
| NG_012798.1:g.176605C>G , LRG_369:g.176605C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.4480C>G (SCN9A) | ENSP00000304748.7:p.Gln1494Glu | |
| ENST00000409435.6:c.4480C>G (SCN9A) | ENSP00000386330.2:p.Gln1494Glu | |
| ENST00000642356.2:c.4480C>G (SCN9A) MANE Select | ENSP00000495601.1:p.Gln1494Glu | |
| ENST00000644316.1:c.4324C>G (SCN9A) | ENSP00000493939.1:p.Gln1442Glu | |
| ENST00000645907.1:c.4447C>G (SCN9A) | ENSP00000495983.1:p.Gln1483Glu | |
| ENST00000646694.1:n.857C>G (SCN9A) | ||
| ENST00000303354.10:c.4480C>G (SCN9A) | ENSP00000304748.7:p.Gln1494Glu | |
| ENST00000409435.5:c.4480C>G (SCN9A) | ENSP00000386330.1:p.Gln1494Glu | |
| ENST00000409672.5:c.4447C>G (SCN9A) | ENSP00000386306.1:p.Gln1483Glu | |
| NM_002977.3:c.4447C>G , LRG_369t1:c.4447C>G (SCN9A) | NP_002968.1:p.Gln1483Glu | |
| NR_110260.1:n.611+4565G>C (SCN1A-AS1) | ||
| XM_005246757.1:c.4480C>G (SCN9A) | XP_005246814.1:p.Gln1494Glu | |
| XM_011511616.1:c.4480C>G (SCN9A) | XP_011509918.1:p.Gln1494Glu | |
| XM_011511617.1:c.4480C>G (SCN9A) | XP_011509919.1:p.Gln1494Glu | |
| XM_011511618.1:c.4447C>G (SCN9A) | XP_011509920.1:p.Gln1483Glu | |
| XM_011511619.1:c.4480C>G (SCN9A) | XP_011509921.1:p.Gln1494Glu | |
| NM_001365536.1:c.4480C>G (SCN9A) MANE Select | NP_001352465.1:p.Gln1494Glu | |
| XM_011511616.3:c.4480C>G (SCN9A) | XP_011509918.1:p.Gln1494Glu | |
| XM_011511617.2:c.4480C>G (SCN9A) | XP_011509919.1:p.Gln1494Glu | |
| XM_011511618.2:c.4447C>G (SCN9A) | XP_011509920.1:p.Gln1483Glu | |
| XM_011511619.2:c.4480C>G (SCN9A) | XP_011509921.1:p.Gln1494Glu | |
| XM_017004668.1:c.4093C>G (SCN9A) | XP_016860157.1:p.Gln1365Glu | |
| XM_017004669.1:c.3736C>G (SCN9A) | XP_016860158.1:p.Gln1246Glu |