Linked Data
ClinVar Variation Id:
194080
dbSNP Id:
rs147678484
ExAC:
2:166003301 G / A
gnomAD v2:
2-166003301-G-A
gnomAD v3:
2-165146791-G-A
gnomAD v4:
2-165146791-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165146791G>A , CM000664.2:g.165146791G>A | GRCh38 |
| NC_000002.11:g.166003301G>A , CM000664.1:g.166003301G>A | GRCh37 |
| NC_000002.10:g.165711547G>A | NCBI36 |
| NG_042289.1:g.62298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706067.1:c.1619C>T (SCN3A) | ENSP00000516211.1:p.Ser540Phe | |
| ENST00000283254.12:c.1619C>T (SCN3A) MANE Select | ENSP00000283254.7:p.Ser540Phe | |
| ENST00000638473.1:c.1619C>T (SCN3A) | ENSP00000491552.1:p.Ser540Phe | |
| ENST00000639244.1:c.1619C>T (SCN3A) | ENSP00000492251.1:p.Ser540Phe | |
| ENST00000640652.1:c.1619C>T (SCN3A) | ENSP00000492807.1:p.Ser540Phe | |
| ENST00000668657.1:c.1619C>T (SCN3A) | ENSP00000499420.1:p.Ser540Phe | |
| ENST00000283254.11:c.1619C>T (SCN3A) | ENSP00000283254.7:p.Ser540Phe | |
| ENST00000360093.7:c.1619C>T (SCN3A) | ENSP00000353206.3:p.Ser540Phe | |
| ENST00000409101.7:c.1619C>T (SCN3A) | ENSP00000386726.3:p.Ser540Phe | |
| ENST00000440431.6:c.1619C>T (SCN3A) | ENSP00000403348.1:p.Ser540Phe | |
| NM_001081676.1:c.1619C>T (SCN3A) | NP_001075145.1:p.Ser540Phe | |
| NM_001081677.1:c.1619C>T (SCN3A) | NP_001075146.1:p.Ser540Phe | |
| NM_006922.3:c.1619C>T (SCN3A) | NP_008853.3:p.Ser540Phe | |
| XM_005246750.2:c.-125+16587G>A (SCN2A) | XP_005246807.1:n.-125+16587G>A | |
| XM_006712679.1:c.1619C>T (SCN3A) | XP_006712742.1:p.Ser540Phe | |
| XM_011511608.1:c.-393+16587G>A (SCN2A) | XP_011509910.1:n.-393+16587G>A | |
| XM_011511609.1:c.-278+16587G>A (SCN2A) | XP_011509911.1:n.-278+16587G>A | |
| XM_011511610.1:c.1619C>T (SCN3A) | XP_011509912.1:p.Ser540Phe | |
| XM_011511611.1:c.1619C>T (SCN3A) | XP_011509913.1:p.Ser540Phe | |
| XM_011511612.1:c.1619C>T (SCN3A) | XP_011509914.1:p.Ser540Phe | |
| XM_011511613.1:c.-138C>T (SCN3A) | XP_011509915.1:n.-138C>T | |
| XM_011511614.1:c.1619C>T (SCN3A) | XP_011509916.1:p.Ser540Phe | |
| XM_011511610.3:c.1619C>T (SCN3A) | XP_011509912.1:p.Ser540Phe | |
| XM_011511613.3:c.-138C>T (SCN3A) | XP_011509915.1:n.-138C>T | |
| XM_017004660.2:c.1619C>T (SCN3A) | XP_016860149.1:p.Ser540Phe | |
| XM_017004661.2:c.1619C>T (SCN3A) | XP_016860150.1:p.Ser540Phe | |
| XM_017004662.2:c.1619C>T (SCN3A) | XP_016860151.1:p.Ser540Phe | |
| XM_017004663.2:c.-138C>T (SCN3A) | XP_016860152.1:n.-138C>T | |
| XM_017004664.1:c.1619C>T (SCN3A) | XP_016860153.1:p.Ser540Phe | |
| XM_017004665.1:c.1619C>T (SCN3A) | XP_016860154.1:p.Ser540Phe | |
| XM_017004666.1:c.1619C>T (SCN3A) | XP_016860155.1:p.Ser540Phe | |
| NM_006922.4:c.1619C>T (SCN3A) MANE Select | NP_008853.3:p.Ser540Phe | |
| NM_001081676.2:c.1619C>T (SCN3A) | NP_001075145.1:p.Ser540Phe | |
| NM_001081677.2:c.1619C>T (SCN3A) | NP_001075146.1:p.Ser540Phe |