Linked Data
ClinVar Variation Id:
130272
ClinVar RCV Id:
RCV000118310
RCV000240565
RCV001086623
RCV001131480
RCV001131479
RCV001131481
RCV002336258
dbSNP Id:
rs199550149
ExAC:
2:167056226 A / G
gnomAD v2:
2-167056226-A-G
gnomAD v3:
2-166199716-A-G
gnomAD v4:
2-166199716-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166199716A>G , CM000664.2:g.166199716A>G | GRCh38 |
| NC_000002.11:g.167056226A>G , CM000664.1:g.167056226A>G | GRCh37 |
| NC_000002.10:g.166764472A>G | NCBI36 |
| NG_012798.1:g.181272T>C , LRG_369:g.181272T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.4923T>C (SCN9A) | ENSP00000304748.7:p.Leu1641= | |
| ENST00000409435.6:c.4923T>C (SCN9A) | ENSP00000386330.2:p.Leu1641= | |
| ENST00000642356.2:c.4923T>C (SCN9A) MANE Select | ENSP00000495601.1:p.Leu1641= | |
| ENST00000644316.1:c.4767T>C (SCN9A) | ENSP00000493939.1:p.Leu1589= | |
| ENST00000645907.1:c.4890T>C (SCN9A) | ENSP00000495983.1:p.Leu1630= | |
| ENST00000646694.1:n.1300T>C (SCN9A) | ||
| ENST00000303354.10:c.4923T>C (SCN9A) | ENSP00000304748.7:p.Leu1641= | |
| ENST00000409435.5:c.4923T>C (SCN9A) | ENSP00000386330.1:p.Leu1641= | |
| ENST00000409672.5:c.4890T>C (SCN9A) | ENSP00000386306.1:p.Leu1630= | |
| NM_002977.3:c.4890T>C , LRG_369t1:c.4890T>C (SCN9A) | NP_002968.1:p.Leu1630= | |
| NR_110260.1:n.509A>G (SCN1A-AS1) | ||
| XM_005246757.1:c.4923T>C (SCN9A) | XP_005246814.1:p.Leu1641= | |
| XM_011511616.1:c.4923T>C (SCN9A) | XP_011509918.1:p.Leu1641= | |
| XM_011511617.1:c.4923T>C (SCN9A) | XP_011509919.1:p.Leu1641= | |
| XM_011511618.1:c.4890T>C (SCN9A) | XP_011509920.1:p.Leu1630= | |
| NM_001365536.1:c.4923T>C (SCN9A) MANE Select | NP_001352465.1:p.Leu1641= | |
| XM_011511616.3:c.4923T>C (SCN9A) | XP_011509918.1:p.Leu1641= | |
| XM_011511617.2:c.4923T>C (SCN9A) | XP_011509919.1:p.Leu1641= | |
| XM_011511618.2:c.4890T>C (SCN9A) | XP_011509920.1:p.Leu1630= | |
| XM_017004668.1:c.4536T>C (SCN9A) | XP_016860157.1:p.Leu1512= | |
| XM_017004669.1:c.4179T>C (SCN9A) | XP_016860158.1:p.Leu1393= |