Linked Data
ClinVar Variation Id:
331943
dbSNP Id:
rs181229506
gnomAD v2:
2-167054397-G-A
gnomAD v3:
2-166197887-G-A
gnomAD v4:
2-166197887-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166197887G>A , CM000664.2:g.166197887G>A | GRCh38 |
| NC_000002.11:g.167054397G>A , CM000664.1:g.167054397G>A | GRCh37 |
| NC_000002.10:g.166762643G>A | NCBI36 |
| NG_012798.1:g.183101C>T , LRG_369:g.183101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.*785C>T (SCN9A) | ENSP00000304748.7:n.*785C>T | |
| ENST00000642356.2:c.*785C>T (SCN9A) MANE Select | ENSP00000495601.1:n.*785C>T | |
| ENST00000645907.1:c.*785C>T (SCN9A) | ENSP00000495983.1:n.*785C>T | |
| ENST00000303354.10:c.*785C>T (SCN9A) | ENSP00000304748.7:n.*785C>T | |
| ENST00000409672.5:c.*785C>T (SCN9A) | ENSP00000386306.1:n.*785C>T | |
| NM_002977.3:c.*785C>T , LRG_369t1:c.*785C>T (SCN9A) | NP_002968.1:n.*785C>T | |
| NR_110260.1:n.432-1752G>A (SCN1A-AS1) | ||
| NM_001365536.1:c.*785C>T (SCN9A) MANE Select | NP_001352465.1:n.*785C>T |