Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166196444C>A , CM000664.2:g.166196444C>A | GRCh38 |
| NC_000002.11:g.167052954C>A , CM000664.1:g.167052954C>A | GRCh37 |
| NC_000002.10:g.166761200C>A | NCBI36 |
| NG_012798.1:g.184544G>T , LRG_369:g.184544G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001365536.1:c.*2228G>T (SCN9A) MANE Select | NP_001352465.1:n.*2228G>T |
| ENST00000642356.2:c.*2228G>T (SCN9A) MANE Select | ENSP00000495601.1:n.*2228G>T |
| NM_002977.3:c.*2228G>T , LRG_369t1:c.*2228G>T (SCN9A) | NP_002968.1:n.*2228G>T |
| NR_110260.1:n.432-3195C>A (SCN1A-AS1) | |
| ENST00000303354.10:c.*2228G>T (SCN9A) | ENSP00000304748.7:n.*2228G>T |
| ENST00000303354.11:c.*2228G>T (SCN9A) | ENSP00000304748.7:n.*2228G>T |
| ENST00000409672.5:c.*2228G>T (SCN9A) | ENSP00000386306.1:n.*2228G>T |