Linked Data
ClinVar Variation Id:
328789
dbSNP Id:
rs369197590
ExAC:
19:33878829 G / A
gnomAD v2:
19-33878829-G-A
gnomAD v3:
19-33387923-G-A
gnomAD v4:
19-33387923-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33387923G>A , CM000681.2:g.33387923G>A | GRCh38 |
| NC_000019.9:g.33878829G>A , CM000681.1:g.33878829G>A | GRCh37 |
| NC_000019.8:g.38570669G>A | NCBI36 |
| NG_013358.1:g.138971C>T | |
| NG_013358.2:g.138971C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.1377C>T | ENSP00000468516.4:p.Arg459= | |
| ENST00000651901.2:c.1311C>T | ENSP00000498922.2:p.Arg437= | |
| ENST00000698359.1:c.1266C>T | ENSP00000513682.1:p.Arg422= | |
| ENST00000698360.1:c.1362C>T | ENSP00000513683.1:p.Arg454= | |
| ENST00000698361.1:c.1427C>T | ENSP00000513684.1:p.Ala476Val | |
| ENST00000698362.1:c.*40C>T | ENSP00000513685.1:n.*40C>T | |
| ENST00000698426.1:c.990C>T | ENSP00000513713.1:p.Arg330= | |
| ENST00000698427.1:c.1353C>T | ENSP00000513714.1:p.Arg451= | |
| ENST00000698428.1:c.990C>T | ENSP00000513715.1:p.Arg330= | |
| ENST00000698429.1:n.1194C>T | ||
| ENST00000698430.1:c.1561C>T | ||
| ENST00000698431.1:c.1048C>T | ENSP00000513717.1:n.1048C>T | |
| ENST00000698432.1:c.1120C>T | ||
| ENST00000698433.1:n.773C>T | ||
| ENST00000244137.12:c.1311C>T MANE Select | ENSP00000244137.5:p.Arg437= | |
| ENST00000588328.6:c.1366C>T | ||
| ENST00000651901.1:c.1307C>T | ||
| ENST00000244137.11:c.1311C>T | ENSP00000244137.5:p.Arg437= | |
| ENST00000397032.8:c.1188C>T | ENSP00000380226.3:p.Arg396= | |
| ENST00000436370.7:c.1119C>T | ENSP00000391890.2:p.Arg373= | |
| ENST00000591968.1:n.383C>T | ||
| ENST00000593085.1:n.1198C>T | ||
| NM_000285.3:c.1311C>T | NP_000276.2:p.Arg437= | |
| NM_001166056.1:c.1188C>T | NP_001159528.1:p.Arg396= | |
| NM_001166057.1:c.1119C>T | NP_001159529.1:p.Arg373= | |
| NM_000285.4:c.1311C>T MANE Select | NP_000276.2:p.Arg437= | |
| NM_001166056.2:c.1188C>T | NP_001159528.1:p.Arg396= | |
| NM_001166057.2:c.1119C>T | NP_001159529.1:p.Arg373= |