Linked Data
ClinVar Variation Id:
130260
ClinVar RCV Id:
RCV000118298
RCV000222414
RCV000313714
RCV000366834
RCV000391228
RCV000391236
RCV000655986
RCV001080160
RCV002433611
dbSNP Id:
rs199692186
ExAC:
2:167129258 T / C
gnomAD v2:
2-167129258-T-C
gnomAD v3:
2-166272748-T-C
gnomAD v4:
2-166272748-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166272748T>C , CM000664.2:g.166272748T>C | GRCh38 |
| NC_000002.11:g.167129258T>C , CM000664.1:g.167129258T>C | GRCh37 |
| NC_000002.10:g.166837504T>C | NCBI36 |
| NG_012798.1:g.108240A>G , LRG_369:g.108240A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.3002A>G (SCN9A) | ENSP00000304748.7:p.Tyr1001Cys | |
| ENST00000409435.6:c.3002A>G (SCN9A) | ENSP00000386330.2:p.Tyr1001Cys | |
| ENST00000642356.2:c.3002A>G (SCN9A) MANE Select | ENSP00000495601.1:p.Tyr1001Cys | |
| ENST00000643319.1:c.2A>G (SCN9A) | ENSP00000494071.1:p.Tyr1Cys | |
| ENST00000644316.1:c.2969A>G (SCN9A) | ENSP00000493939.1:p.Tyr990Cys | |
| ENST00000645907.1:c.2969A>G (SCN9A) | ENSP00000495983.1:p.Tyr990Cys | |
| ENST00000667201.2:c.1877-250A>G (SCN9A) | ||
| ENST00000303354.10:c.3002A>G (SCN9A) | ENSP00000304748.7:p.Tyr1001Cys | |
| ENST00000409435.5:c.3002A>G (SCN9A) | ENSP00000386330.1:p.Tyr1001Cys | |
| ENST00000409672.5:c.2969A>G (SCN9A) | ENSP00000386306.1:p.Tyr990Cys | |
| NM_002977.3:c.2969A>G , LRG_369t1:c.2969A>G (SCN9A) | NP_002968.1:p.Tyr990Cys | |
| NR_110260.1:n.870-4340T>C (SCN1A-AS1) | ||
| XM_005246757.1:c.3002A>G (SCN9A) | XP_005246814.1:p.Tyr1001Cys | |
| XM_011511616.1:c.3002A>G (SCN9A) | XP_011509918.1:p.Tyr1001Cys | |
| XM_011511617.1:c.3002A>G (SCN9A) | XP_011509919.1:p.Tyr1001Cys | |
| XM_011511618.1:c.2969A>G (SCN9A) | XP_011509920.1:p.Tyr990Cys | |
| XM_011511619.1:c.3002A>G (SCN9A) | XP_011509921.1:p.Tyr1001Cys | |
| NM_001365536.1:c.3002A>G (SCN9A) MANE Select | NP_001352465.1:p.Tyr1001Cys | |
| XM_011511616.3:c.3002A>G (SCN9A) | XP_011509918.1:p.Tyr1001Cys | |
| XM_011511617.2:c.3002A>G (SCN9A) | XP_011509919.1:p.Tyr1001Cys | |
| XM_011511618.2:c.2969A>G (SCN9A) | XP_011509920.1:p.Tyr990Cys | |
| XM_011511619.2:c.3002A>G (SCN9A) | XP_011509921.1:p.Tyr1001Cys | |
| XM_017004668.1:c.2615A>G (SCN9A) | XP_016860157.1:p.Tyr872Cys | |
| XM_017004669.1:c.2258A>G (SCN9A) | XP_016860158.1:p.Tyr753Cys |