Linked Data
ClinVar Variation Id:
94090
ClinVar RCV Id:
RCV000080039
RCV000284177
RCV000389941
RCV000469131
RCV000375717
RCV000490436
RCV000992915
dbSNP Id:
rs4369876
ExAC:
2:167129256 C / A
gnomAD v2:
2-167129256-C-A
gnomAD v3:
2-166272746-C-A
gnomAD v4:
2-166272746-C-A
PubMed:
PMID:21698661
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166272746C>A , CM000664.2:g.166272746C>A | GRCh38 |
| NC_000002.11:g.167129256C>A , CM000664.1:g.167129256C>A | GRCh37 |
| NC_000002.10:g.166837502C>A | NCBI36 |
| NG_012798.1:g.108242G>T , LRG_369:g.108242G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.3004G>T (SCN9A) | ENSP00000304748.7:p.Val1002Leu | |
| ENST00000409435.6:c.3004G>T (SCN9A) | ENSP00000386330.2:p.Val1002Leu | |
| ENST00000642356.2:c.3004G>T (SCN9A) MANE Select | ENSP00000495601.1:p.Val1002Leu | |
| ENST00000643319.1:c.4G>T (SCN9A) | ENSP00000494071.1:p.Val2Leu | |
| ENST00000644316.1:c.2971G>T (SCN9A) | ENSP00000493939.1:p.Val991Leu | |
| ENST00000645907.1:c.2971G>T (SCN9A) | ENSP00000495983.1:p.Val991Leu | |
| ENST00000667201.2:c.1877-248G>T (SCN9A) | ||
| ENST00000303354.10:c.3004G>T (SCN9A) | ENSP00000304748.7:p.Val1002Leu | |
| ENST00000409435.5:c.3004G>T (SCN9A) | ENSP00000386330.1:p.Val1002Leu | |
| ENST00000409672.5:c.2971G>T (SCN9A) | ENSP00000386306.1:p.Val991Leu | |
| NM_002977.3:c.2971G>T , LRG_369t1:c.2971G>T (SCN9A) | NP_002968.1:p.Val991Leu | |
| NR_110260.1:n.870-4342C>A (SCN1A-AS1) | ||
| XM_005246757.1:c.3004G>T (SCN9A) | XP_005246814.1:p.Val1002Leu | |
| XM_011511616.1:c.3004G>T (SCN9A) | XP_011509918.1:p.Val1002Leu | |
| XM_011511617.1:c.3004G>T (SCN9A) | XP_011509919.1:p.Val1002Leu | |
| XM_011511618.1:c.2971G>T (SCN9A) | XP_011509920.1:p.Val991Leu | |
| XM_011511619.1:c.3004G>T (SCN9A) | XP_011509921.1:p.Val1002Leu | |
| NM_001365536.1:c.3004G>T (SCN9A) MANE Select | NP_001352465.1:p.Val1002Leu | |
| XM_011511616.3:c.3004G>T (SCN9A) | XP_011509918.1:p.Val1002Leu | |
| XM_011511617.2:c.3004G>T (SCN9A) | XP_011509919.1:p.Val1002Leu | |
| XM_011511618.2:c.2971G>T (SCN9A) | XP_011509920.1:p.Val991Leu | |
| XM_011511619.2:c.3004G>T (SCN9A) | XP_011509921.1:p.Val1002Leu | |
| XM_017004668.1:c.2617G>T (SCN9A) | XP_016860157.1:p.Val873Leu | |
| XM_017004669.1:c.2260G>T (SCN9A) | XP_016860158.1:p.Val754Leu |