Linked Data
ClinVar Variation Id:
331954
dbSNP Id:
rs200625860
gnomAD v2:
2-167054965-C-T
gnomAD v3:
2-166198455-C-T
gnomAD v4:
2-166198455-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166198455C>T , CM000664.2:g.166198455C>T | GRCh38 |
| NC_000002.11:g.167054965C>T , CM000664.1:g.167054965C>T | GRCh37 |
| NC_000002.10:g.166763211C>T | NCBI36 |
| NG_012798.1:g.182533G>A , LRG_369:g.182533G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.*217G>A (SCN9A) | ENSP00000304748.7:n.*217G>A | |
| ENST00000642356.2:c.*217G>A (SCN9A) MANE Select | ENSP00000495601.1:n.*217G>A | |
| ENST00000644316.1:c.6028G>A (SCN9A) | ENSP00000493939.1:n.6028G>A | |
| ENST00000645907.1:c.*217G>A (SCN9A) | ENSP00000495983.1:n.*217G>A | |
| ENST00000646694.1:n.2561G>A (SCN9A) | ||
| ENST00000303354.10:c.*217G>A (SCN9A) | ENSP00000304748.7:n.*217G>A | |
| ENST00000409672.5:c.*217G>A (SCN9A) | ENSP00000386306.1:n.*217G>A | |
| NM_002977.3:c.*217G>A , LRG_369t1:c.*217G>A (SCN9A) | NP_002968.1:n.*217G>A | |
| NR_110260.1:n.432-1184C>T (SCN1A-AS1) | ||
| XM_005246757.1:c.*217G>A (SCN9A) | XP_005246814.1:n.*217G>A | |
| XM_011511616.1:c.*217G>A (SCN9A) | XP_011509918.1:n.*217G>A | |
| XM_011511617.1:c.*217G>A (SCN9A) | XP_011509919.1:n.*217G>A | |
| XM_011511618.1:c.*217G>A (SCN9A) | XP_011509920.1:n.*217G>A | |
| NM_001365536.1:c.*217G>A (SCN9A) MANE Select | NP_001352465.1:n.*217G>A |