Linked Data
ClinVar Variation Id:
510831
ClinVar RCV Id:
RCV002529621
dbSNP Id:
rs763278343
ExAC:
2:167128894 A / G
gnomAD v2:
2-167128894-A-G
gnomAD v4:
2-166272384-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166272384A>G , CM000664.2:g.166272384A>G | GRCh38 |
| NC_000002.11:g.167128894A>G , CM000664.1:g.167128894A>G | GRCh37 |
| NC_000002.10:g.166837140A>G | NCBI36 |
| NG_012798.1:g.108604T>C , LRG_369:g.108604T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303354.11:c.3351+15T>C (SCN9A) | ENSP00000304748.7:n.3351+15T>C | |
| ENST00000409435.6:c.3351+15T>C (SCN9A) | ENSP00000386330.2:n.3351+15T>C | |
| ENST00000642356.2:c.3351+15T>C (SCN9A) MANE Select | ENSP00000495601.1:n.3351+15T>C | |
| ENST00000643319.1:c.351+15T>C (SCN9A) | ENSP00000494071.1:n.351+15T>C | |
| ENST00000644316.1:c.3318+15T>C (SCN9A) | ENSP00000493939.1:n.3318+15T>C | |
| ENST00000645907.1:c.3318+15T>C (SCN9A) | ENSP00000495983.1:n.3318+15T>C | |
| ENST00000667201.2:c.1976+15T>C (SCN9A) | ||
| ENST00000303354.10:c.3351+15T>C (SCN9A) | ENSP00000304748.7:n.3351+15T>C | |
| ENST00000409435.5:c.3351+15T>C (SCN9A) | ENSP00000386330.1:n.3351+15T>C | |
| ENST00000409672.5:c.3318+15T>C (SCN9A) | ENSP00000386306.1:n.3318+15T>C | |
| NM_002977.3:c.3318+15T>C , LRG_369t1:c.3318+15T>C (SCN9A) | NP_002968.1:n.3318+15T>C | |
| NR_110260.1:n.870-4704A>G (SCN1A-AS1) | ||
| XM_005246757.1:c.3351+15T>C (SCN9A) | XP_005246814.1:n.3351+15T>C | |
| XM_011511616.1:c.3351+15T>C (SCN9A) | XP_011509918.1:n.3351+15T>C | |
| XM_011511617.1:c.3351+15T>C (SCN9A) | XP_011509919.1:n.3351+15T>C | |
| XM_011511618.1:c.3318+15T>C (SCN9A) | XP_011509920.1:n.3318+15T>C | |
| XM_011511619.1:c.3351+15T>C (SCN9A) | XP_011509921.1:n.3351+15T>C | |
| NM_001365536.1:c.3351+15T>C (SCN9A) MANE Select | NP_001352465.1:n.3351+15T>C | |
| XM_011511616.3:c.3351+15T>C (SCN9A) | XP_011509918.1:n.3351+15T>C | |
| XM_011511617.2:c.3351+15T>C (SCN9A) | XP_011509919.1:n.3351+15T>C | |
| XM_011511618.2:c.3318+15T>C (SCN9A) | XP_011509920.1:n.3318+15T>C | |
| XM_011511619.2:c.3351+15T>C (SCN9A) | XP_011509921.1:n.3351+15T>C | |
| XM_017004668.1:c.2964+15T>C (SCN9A) | XP_016860157.1:n.2964+15T>C | |
| XM_017004669.1:c.2607+15T>C (SCN9A) | XP_016860158.1:n.2607+15T>C |