Linked Data
ClinVar Variation Id:
331979
dbSNP Id:
rs201890077
ExAC:
2:167133515 A / G
gnomAD v2:
2-167133515-A-G
gnomAD v3:
2-166277005-A-G
gnomAD v4:
2-166277005-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166277005A>G , CM000664.2:g.166277005A>G | GRCh38 |
| NC_000002.11:g.167133515A>G , CM000664.1:g.167133515A>G | GRCh37 |
| NC_000002.10:g.166841761A>G | NCBI36 |
| NG_012798.1:g.103983T>C , LRG_369:g.103983T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.2852T>C (SCN9A) | ENSP00000304748.7:p.Val951Ala | |
| ENST00000409435.6:c.2852T>C (SCN9A) | ENSP00000386330.2:p.Val951Ala | |
| ENST00000642356.2:c.2852T>C (SCN9A) MANE Select | ENSP00000495601.1:p.Val951Ala | |
| ENST00000644316.1:c.2819T>C (SCN9A) | ENSP00000493939.1:p.Val940Ala | |
| ENST00000645283.1:c.509T>C (SCN9A) | ENSP00000496086.1:p.Val170Ala | |
| ENST00000645907.1:c.2819T>C (SCN9A) | ENSP00000495983.1:p.Val940Ala | |
| ENST00000667201.2:c.1854T>C (SCN9A) | ||
| ENST00000303354.10:c.2852T>C (SCN9A) | ENSP00000304748.7:p.Val951Ala | |
| ENST00000409435.5:c.2852T>C (SCN9A) | ENSP00000386330.1:p.Val951Ala | |
| ENST00000409672.5:c.2819T>C (SCN9A) | ENSP00000386306.1:p.Val940Ala | |
| NM_002977.3:c.2819T>C , LRG_369t1:c.2819T>C (SCN9A) | NP_002968.1:p.Val940Ala | |
| NR_110260.1:n.870-83A>G (SCN1A-AS1) | ||
| XM_005246757.1:c.2852T>C (SCN9A) | XP_005246814.1:p.Val951Ala | |
| XM_011511616.1:c.2852T>C (SCN9A) | XP_011509918.1:p.Val951Ala | |
| XM_011511617.1:c.2852T>C (SCN9A) | XP_011509919.1:p.Val951Ala | |
| XM_011511618.1:c.2819T>C (SCN9A) | XP_011509920.1:p.Val940Ala | |
| XM_011511619.1:c.2852T>C (SCN9A) | XP_011509921.1:p.Val951Ala | |
| NM_001365536.1:c.2852T>C (SCN9A) MANE Select | NP_001352465.1:p.Val951Ala | |
| XM_011511616.3:c.2852T>C (SCN9A) | XP_011509918.1:p.Val951Ala | |
| XM_011511617.2:c.2852T>C (SCN9A) | XP_011509919.1:p.Val951Ala | |
| XM_011511618.2:c.2819T>C (SCN9A) | XP_011509920.1:p.Val940Ala | |
| XM_011511619.2:c.2852T>C (SCN9A) | XP_011509921.1:p.Val951Ala | |
| XM_017004668.1:c.2465T>C (SCN9A) | XP_016860157.1:p.Val822Ala | |
| XM_017004669.1:c.2108T>C (SCN9A) | XP_016860158.1:p.Val703Ala | |
| XR_001738886.1:n.3166T>C (SCN9A) |