Linked Data
ClinVar Variation Id:
254095
ClinVar RCV Id:
RCV000285786
RCV000384589
RCV000402179
RCV000498158
RCV001086993
RCV001332207
RCV000344215
RCV002450757
dbSNP Id:
rs41268671
ExAC:
2:167134706 C / T
gnomAD v2:
2-167134706-C-T
gnomAD v3:
2-166278196-C-T
gnomAD v4:
2-166278196-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166278196C>T , CM000664.2:g.166278196C>T | GRCh38 |
| NC_000002.11:g.167134706C>T , CM000664.1:g.167134706C>T | GRCh37 |
| NC_000002.10:g.166842952C>T | NCBI36 |
| NG_012798.1:g.102792G>A , LRG_369:g.102792G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.2461G>A (SCN9A) | ENSP00000304748.7:p.Val821Met | |
| ENST00000409435.6:c.2461G>A (SCN9A) | ENSP00000386330.2:p.Val821Met | |
| ENST00000454569.6:c.2428G>A (SCN9A) | ENSP00000413212.2:p.Val810Met | |
| ENST00000642356.2:c.2461G>A (SCN9A) MANE Select | ENSP00000495601.1:p.Val821Met | |
| ENST00000644316.1:c.2428G>A (SCN9A) | ENSP00000493939.1:p.Val810Met | |
| ENST00000645283.1:c.118G>A (SCN9A) | ENSP00000496086.1:p.Val40Met | |
| ENST00000645907.1:c.2428G>A (SCN9A) | ENSP00000495983.1:p.Val810Met | |
| ENST00000667201.2:c.1463G>A (SCN9A) | ||
| ENST00000303354.10:c.2461G>A (SCN9A) | ENSP00000304748.7:p.Val821Met | |
| ENST00000409435.5:c.2461G>A (SCN9A) | ENSP00000386330.1:p.Val821Met | |
| ENST00000409672.5:c.2428G>A (SCN9A) | ENSP00000386306.1:p.Val810Met | |
| NM_002977.3:c.2428G>A , LRG_369t1:c.2428G>A (SCN9A) | NP_002968.1:p.Val810Met | |
| NR_110260.1:n.1029+949C>T (SCN1A-AS1) | ||
| XM_005246757.1:c.2461G>A (SCN9A) | XP_005246814.1:p.Val821Met | |
| XM_011511616.1:c.2461G>A (SCN9A) | XP_011509918.1:p.Val821Met | |
| XM_011511617.1:c.2461G>A (SCN9A) | XP_011509919.1:p.Val821Met | |
| XM_011511618.1:c.2428G>A (SCN9A) | XP_011509920.1:p.Val810Met | |
| XM_011511619.1:c.2461G>A (SCN9A) | XP_011509921.1:p.Val821Met | |
| NM_001365536.1:c.2461G>A (SCN9A) MANE Select | NP_001352465.1:p.Val821Met | |
| XM_011511616.3:c.2461G>A (SCN9A) | XP_011509918.1:p.Val821Met | |
| XM_011511617.2:c.2461G>A (SCN9A) | XP_011509919.1:p.Val821Met | |
| XM_011511618.2:c.2428G>A (SCN9A) | XP_011509920.1:p.Val810Met | |
| XM_011511619.2:c.2461G>A (SCN9A) | XP_011509921.1:p.Val821Met | |
| XM_017004668.1:c.2074G>A (SCN9A) | XP_016860157.1:p.Val692Met | |
| XM_017004669.1:c.1717G>A (SCN9A) | XP_016860158.1:p.Val573Met | |
| XR_001738886.1:n.2775G>A (SCN9A) |