Linked Data
ClinVar Variation Id:
331945
dbSNP Id:
rs538508619
gnomAD v2:
2-167054513-T-C
gnomAD v3:
2-166198003-T-C
gnomAD v4:
2-166198003-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166198003T>C , CM000664.2:g.166198003T>C | GRCh38 |
| NC_000002.11:g.167054513T>C , CM000664.1:g.167054513T>C | GRCh37 |
| NC_000002.10:g.166762759T>C | NCBI36 |
| NG_012798.1:g.182985A>G , LRG_369:g.182985A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.*669A>G (SCN9A) | ENSP00000304748.7:n.*669A>G | |
| ENST00000642356.2:c.*669A>G (SCN9A) MANE Select | ENSP00000495601.1:n.*669A>G | |
| ENST00000645907.1:c.*669A>G (SCN9A) | ENSP00000495983.1:n.*669A>G | |
| ENST00000303354.10:c.*669A>G (SCN9A) | ENSP00000304748.7:n.*669A>G | |
| ENST00000409672.5:c.*669A>G (SCN9A) | ENSP00000386306.1:n.*669A>G | |
| NM_002977.3:c.*669A>G , LRG_369t1:c.*669A>G (SCN9A) | NP_002968.1:n.*669A>G | |
| NR_110260.1:n.432-1636T>C (SCN1A-AS1) | ||
| NM_001365536.1:c.*669A>G (SCN9A) MANE Select | NP_001352465.1:n.*669A>G |