Linked Data
ClinVar Variation Id:
30357
ClinVar RCV Id:
RCV000118297
RCV000191125
RCV000393721
RCV000476046
RCV000023302
RCV001546748
RCV002415425
RCV000311897
dbSNP Id:
rs200945460
ExAC:
2:167137018 A / T
gnomAD v2:
2-167137018-A-T
gnomAD v3:
2-166280508-A-T
gnomAD v4:
2-166280508-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166280508A>T , CM000664.2:g.166280508A>T | GRCh38 |
| NC_000002.11:g.167137018A>T , CM000664.1:g.167137018A>T | GRCh37 |
| NC_000002.10:g.166845264A>T | NCBI36 |
| NG_012798.1:g.100480T>A , LRG_369:g.100480T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.2192T>A (SCN9A) | ENSP00000304748.7:p.Ile731Lys | |
| ENST00000409435.6:c.2192T>A (SCN9A) | ENSP00000386330.2:p.Ile731Lys | |
| ENST00000454569.6:c.2159T>A (SCN9A) | ENSP00000413212.2:p.Ile720Lys | |
| ENST00000642356.2:c.2192T>A (SCN9A) MANE Select | ENSP00000495601.1:p.Ile731Lys | |
| ENST00000644316.1:c.2159T>A (SCN9A) | ENSP00000493939.1:p.Ile720Lys | |
| ENST00000645907.1:c.2159T>A (SCN9A) | ENSP00000495983.1:p.Ile720Lys | |
| ENST00000667201.2:c.1194T>A (SCN9A) | ||
| ENST00000303354.10:c.2192T>A (SCN9A) | ENSP00000304748.7:p.Ile731Lys | |
| ENST00000409435.5:c.2192T>A (SCN9A) | ENSP00000386330.1:p.Ile731Lys | |
| ENST00000409672.5:c.2159T>A (SCN9A) | ENSP00000386306.1:p.Ile720Lys | |
| NM_002977.3:c.2159T>A , LRG_369t1:c.2159T>A (SCN9A) | NP_002968.1:p.Ile720Lys | |
| NR_110260.1:n.1029+3261A>T (SCN1A-AS1) | ||
| XM_005246757.1:c.2192T>A (SCN9A) | XP_005246814.1:p.Ile731Lys | |
| XM_011511616.1:c.2192T>A (SCN9A) | XP_011509918.1:p.Ile731Lys | |
| XM_011511617.1:c.2192T>A (SCN9A) | XP_011509919.1:p.Ile731Lys | |
| XM_011511618.1:c.2159T>A (SCN9A) | XP_011509920.1:p.Ile720Lys | |
| XM_011511619.1:c.2192T>A (SCN9A) | XP_011509921.1:p.Ile731Lys | |
| NM_001365536.1:c.2192T>A (SCN9A) MANE Select | NP_001352465.1:p.Ile731Lys | |
| XM_011511616.3:c.2192T>A (SCN9A) | XP_011509918.1:p.Ile731Lys | |
| XM_011511617.2:c.2192T>A (SCN9A) | XP_011509919.1:p.Ile731Lys | |
| XM_011511618.2:c.2159T>A (SCN9A) | XP_011509920.1:p.Ile720Lys | |
| XM_011511619.2:c.2192T>A (SCN9A) | XP_011509921.1:p.Ile731Lys | |
| XM_017004668.1:c.1805T>A (SCN9A) | XP_016860157.1:p.Ile602Lys | |
| XM_017004669.1:c.1448T>A (SCN9A) | XP_016860158.1:p.Ile483Lys | |
| XR_001738886.1:n.2506T>A (SCN9A) |