Linked Data
ClinVar Variation Id:
193859
ClinVar RCV Id:
RCV000277449
RCV000290806
RCV000348148
RCV000388718
RCV000468717
RCV000723961
RCV000781948
RCV001332206
RCV002399622
dbSNP Id:
rs187453572
ExAC:
2:167142893 C / T
gnomAD v2:
2-167142893-C-T
gnomAD v3:
2-166286383-C-T
gnomAD v4:
2-166286383-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166286383C>T , CM000664.2:g.166286383C>T | GRCh38 |
| NC_000002.11:g.167142893C>T , CM000664.1:g.167142893C>T | GRCh37 |
| NC_000002.10:g.166851139C>T | NCBI36 |
| NG_012798.1:g.94605G>A , LRG_369:g.94605G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303354.11:c.1555G>A (SCN9A) | ENSP00000304748.7:p.Glu519Lys | |
| ENST00000409435.6:c.1555G>A (SCN9A) | ENSP00000386330.2:p.Glu519Lys | |
| ENST00000454569.6:c.1555G>A (SCN9A) | ENSP00000413212.2:p.Glu519Lys | |
| ENST00000642356.2:c.1555G>A (SCN9A) MANE Select | ENSP00000495601.1:p.Glu519Lys | |
| ENST00000644316.1:c.1555G>A (SCN9A) | ENSP00000493939.1:p.Glu519Lys | |
| ENST00000645907.1:c.1555G>A (SCN9A) | ENSP00000495983.1:p.Glu519Lys | |
| ENST00000667201.2:c.590G>A (SCN9A) | ||
| ENST00000303354.10:c.1555G>A (SCN9A) | ENSP00000304748.7:p.Glu519Lys | |
| ENST00000409435.5:c.1555G>A (SCN9A) | ENSP00000386330.1:p.Glu519Lys | |
| ENST00000409672.5:c.1555G>A (SCN9A) | ENSP00000386306.1:p.Glu519Lys | |
| ENST00000452182.1:c.1150G>A (SCN9A) | ENSP00000393141.1:p.Glu384Lys | |
| ENST00000454569.5:c.1150G>A (SCN9A) | ENSP00000413212.1:p.Glu384Lys | |
| NM_002977.3:c.1555G>A , LRG_369t1:c.1555G>A (SCN9A) | NP_002968.1:p.Glu519Lys | |
| NR_110260.1:n.1030-8182C>T (SCN1A-AS1) | ||
| XM_005246757.1:c.1555G>A (SCN9A) | XP_005246814.1:p.Glu519Lys | |
| XM_011511616.1:c.1555G>A (SCN9A) | XP_011509918.1:p.Glu519Lys | |
| XM_011511617.1:c.1555G>A (SCN9A) | XP_011509919.1:p.Glu519Lys | |
| XM_011511618.1:c.1555G>A (SCN9A) | XP_011509920.1:p.Glu519Lys | |
| XM_011511619.1:c.1555G>A (SCN9A) | XP_011509921.1:p.Glu519Lys | |
| NM_001365536.1:c.1555G>A (SCN9A) MANE Select | NP_001352465.1:p.Glu519Lys | |
| XM_011511616.3:c.1555G>A (SCN9A) | XP_011509918.1:p.Glu519Lys | |
| XM_011511617.2:c.1555G>A (SCN9A) | XP_011509919.1:p.Glu519Lys | |
| XM_011511618.2:c.1555G>A (SCN9A) | XP_011509920.1:p.Glu519Lys | |
| XM_011511619.2:c.1555G>A (SCN9A) | XP_011509921.1:p.Glu519Lys | |
| XM_017004668.1:c.1168G>A (SCN9A) | XP_016860157.1:p.Glu390Lys | |
| XM_017004669.1:c.811G>A (SCN9A) | XP_016860158.1:p.Glu271Lys | |
| XR_001738886.1:n.1869G>A (SCN9A) |