Linked Data
ClinVar Variation Id:
328782
ClinVar RCV Id:
RCV000305636
dbSNP Id:
rs375067721
ExAC:
19:33878210 A / T
gnomAD v2:
19-33878210-A-T
gnomAD v3:
19-33387304-A-T
gnomAD v4:
19-33387304-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33387304A>T , CM000681.2:g.33387304A>T | GRCh38 |
| NC_000019.9:g.33878210A>T , CM000681.1:g.33878210A>T | GRCh37 |
| NC_000019.8:g.38570050A>T | NCBI36 |
| NG_013358.1:g.139590T>A | |
| NG_013358.2:g.139590T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.*40T>A | ENSP00000468516.4:n.*40T>A | |
| ENST00000651901.2:c.*40T>A | ENSP00000498922.2:n.*40T>A | |
| ENST00000698359.1:c.*40T>A | ENSP00000513682.1:n.*40T>A | |
| ENST00000698360.1:c.*40T>A | ENSP00000513683.1:n.*40T>A | |
| ENST00000698361.1:c.*150T>A | ENSP00000513684.1:n.*150T>A | |
| ENST00000698362.1:c.*659T>A | ENSP00000513685.1:n.*659T>A | |
| ENST00000698426.1:c.*40T>A | ENSP00000513713.1:n.*40T>A | |
| ENST00000698427.1:c.*40T>A | ENSP00000513714.1:n.*40T>A | |
| ENST00000698428.1:c.*40T>A | ENSP00000513715.1:n.*40T>A | |
| ENST00000698429.1:n.1405T>A | ||
| ENST00000698430.1:c.1772T>A | ||
| ENST00000698431.1:c.1259T>A | ENSP00000513717.1:n.1259T>A | |
| ENST00000698432.1:c.1331T>A | ||
| ENST00000244137.12:c.*40T>A MANE Select | ENSP00000244137.5:n.*40T>A | |
| ENST00000588328.6:c.1577T>A | ||
| ENST00000651901.1:c.1608T>A | ||
| ENST00000244137.11:c.*40T>A | ENSP00000244137.5:n.*40T>A | |
| ENST00000397032.8:c.*40T>A | ENSP00000380226.3:n.*40T>A | |
| ENST00000436370.7:c.*40T>A | ENSP00000391890.2:n.*40T>A | |
| ENST00000589598.5:n.247T>A | ||
| ENST00000591968.1:n.594T>A | ||
| ENST00000593085.1:n.1409T>A | ||
| NM_000285.3:c.*40T>A | NP_000276.2:n.*40T>A | |
| NM_001166056.1:c.*40T>A | NP_001159528.1:n.*40T>A | |
| NM_001166057.1:c.*40T>A | NP_001159529.1:n.*40T>A | |
| NM_000285.4:c.*40T>A MANE Select | NP_000276.2:n.*40T>A | |
| NM_001166056.2:c.*40T>A | NP_001159528.1:n.*40T>A | |
| NM_001166057.2:c.*40T>A | NP_001159529.1:n.*40T>A |