Linked Data
ClinVar Variation Id:
258885
ClinVar RCV Id:
RCV000249295
RCV000527962
RCV001132740
RCV001132739
RCV001132741
RCV001824712
RCV002450776
RCV003148696
dbSNP Id:
rs200160858
ExAC:
2:167108345 C / A
gnomAD v2:
2-167108345-C-A
gnomAD v3:
2-166251835-C-A
gnomAD v4:
2-166251835-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166251835C>A , CM000664.2:g.166251835C>A | GRCh38 |
| NC_000002.11:g.167108345C>A , CM000664.1:g.167108345C>A | GRCh37 |
| NC_000002.10:g.166816591C>A | NCBI36 |
| NG_012798.1:g.129153G>T , LRG_369:g.129153G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.3402G>T (SCN9A) | ENSP00000304748.7:p.Leu1134Phe | |
| ENST00000409435.6:c.3402G>T (SCN9A) | ENSP00000386330.2:p.Leu1134Phe | |
| ENST00000642356.2:c.3402G>T (SCN9A) MANE Select | ENSP00000495601.1:p.Leu1134Phe | |
| ENST00000643319.1:c.484G>T (SCN9A) | ENSP00000494071.1:n.484G>T | |
| ENST00000644316.1:c.3369G>T (SCN9A) | ENSP00000493939.1:p.Leu1123Phe | |
| ENST00000645907.1:c.3369G>T (SCN9A) | ENSP00000495983.1:p.Leu1123Phe | |
| ENST00000667201.2:c.2027G>T (SCN9A) | ||
| ENST00000303354.10:c.3402G>T (SCN9A) | ENSP00000304748.7:p.Leu1134Phe | |
| ENST00000409435.5:c.3402G>T (SCN9A) | ENSP00000386330.1:p.Leu1134Phe | |
| ENST00000409672.5:c.3369G>T (SCN9A) | ENSP00000386306.1:p.Leu1123Phe | |
| NM_002977.3:c.3369G>T , LRG_369t1:c.3369G>T (SCN9A) | NP_002968.1:p.Leu1123Phe | |
| NR_110260.1:n.792C>A (SCN1A-AS1) | ||
| XM_005246757.1:c.3402G>T (SCN9A) | XP_005246814.1:p.Leu1134Phe | |
| XM_011511616.1:c.3402G>T (SCN9A) | XP_011509918.1:p.Leu1134Phe | |
| XM_011511617.1:c.3402G>T (SCN9A) | XP_011509919.1:p.Leu1134Phe | |
| XM_011511618.1:c.3369G>T (SCN9A) | XP_011509920.1:p.Leu1123Phe | |
| XM_011511619.1:c.3402G>T (SCN9A) | XP_011509921.1:p.Leu1134Phe | |
| NM_001365536.1:c.3402G>T (SCN9A) MANE Select | NP_001352465.1:p.Leu1134Phe | |
| XM_011511616.3:c.3402G>T (SCN9A) | XP_011509918.1:p.Leu1134Phe | |
| XM_011511617.2:c.3402G>T (SCN9A) | XP_011509919.1:p.Leu1134Phe | |
| XM_011511618.2:c.3369G>T (SCN9A) | XP_011509920.1:p.Leu1123Phe | |
| XM_011511619.2:c.3402G>T (SCN9A) | XP_011509921.1:p.Leu1134Phe | |
| XM_017004668.1:c.3015G>T (SCN9A) | XP_016860157.1:p.Leu1005Phe | |
| XM_017004669.1:c.2658G>T (SCN9A) | XP_016860158.1:p.Leu886Phe |