Linked Data
ClinVar Variation Id:
167659
ClinVar RCV Id:
RCV000153916
RCV000264427
RCV000309027
RCV000305661
RCV000345278
RCV001596978
RCV002056045
dbSNP Id:
rs6432893
ExAC:
2:167137119 G / A
gnomAD v2:
2-167137119-G-A
gnomAD v3:
2-166280609-G-A
gnomAD v4:
2-166280609-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166280609G>A , CM000664.2:g.166280609G>A | GRCh38 |
| NC_000002.11:g.167137119G>A , CM000664.1:g.167137119G>A | GRCh37 |
| NC_000002.10:g.166845365G>A | NCBI36 |
| NG_012798.1:g.100379C>T , LRG_369:g.100379C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.2105-14C>T (SCN9A) | ENSP00000304748.7:n.2105-14C>T | |
| ENST00000409435.6:c.2105-14C>T (SCN9A) | ENSP00000386330.2:n.2105-14C>T | |
| ENST00000454569.6:c.2072-14C>T (SCN9A) | ENSP00000413212.2:n.2072-14C>T | |
| ENST00000642356.2:c.2105-14C>T (SCN9A) MANE Select | ENSP00000495601.1:n.2105-14C>T | |
| ENST00000644316.1:c.2072-14C>T (SCN9A) | ENSP00000493939.1:n.2072-14C>T | |
| ENST00000645907.1:c.2072-14C>T (SCN9A) | ENSP00000495983.1:n.2072-14C>T | |
| ENST00000667201.2:c.1107-14C>T (SCN9A) | ||
| ENST00000303354.10:c.2105-14C>T (SCN9A) | ENSP00000304748.7:n.2105-14C>T | |
| ENST00000409435.5:c.2105-14C>T (SCN9A) | ENSP00000386330.1:n.2105-14C>T | |
| ENST00000409672.5:c.2072-14C>T (SCN9A) | ENSP00000386306.1:n.2072-14C>T | |
| NM_002977.3:c.2072-14C>T , LRG_369t1:c.2072-14C>T (SCN9A) | NP_002968.1:n.2072-14C>T | |
| NR_110260.1:n.1029+3362G>A (SCN1A-AS1) | ||
| XM_005246757.1:c.2105-14C>T (SCN9A) | XP_005246814.1:n.2105-14C>T | |
| XM_011511616.1:c.2105-14C>T (SCN9A) | XP_011509918.1:n.2105-14C>T | |
| XM_011511617.1:c.2105-14C>T (SCN9A) | XP_011509919.1:n.2105-14C>T | |
| XM_011511618.1:c.2072-14C>T (SCN9A) | XP_011509920.1:n.2072-14C>T | |
| XM_011511619.1:c.2105-14C>T (SCN9A) | XP_011509921.1:n.2105-14C>T | |
| NM_001365536.1:c.2105-14C>T (SCN9A) MANE Select | NP_001352465.1:n.2105-14C>T | |
| XM_011511616.3:c.2105-14C>T (SCN9A) | XP_011509918.1:n.2105-14C>T | |
| XM_011511617.2:c.2105-14C>T (SCN9A) | XP_011509919.1:n.2105-14C>T | |
| XM_011511618.2:c.2072-14C>T (SCN9A) | XP_011509920.1:n.2072-14C>T | |
| XM_011511619.2:c.2105-14C>T (SCN9A) | XP_011509921.1:n.2105-14C>T | |
| XM_017004668.1:c.1718-14C>T (SCN9A) | XP_016860157.1:n.1718-14C>T | |
| XM_017004669.1:c.1361-14C>T (SCN9A) | XP_016860158.1:n.1361-14C>T | |
| XR_001738886.1:n.2419-14C>T (SCN9A) |