Linked Data
ClinVar Variation Id:
328798
dbSNP Id:
rs886054335
gnomAD v2:
19-33878993-G-A
gnomAD v4:
19-33388087-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33388087G>A , CM000681.2:g.33388087G>A | GRCh38 |
| NC_000019.9:g.33878993G>A , CM000681.1:g.33878993G>A | GRCh37 |
| NC_000019.8:g.38570833G>A | NCBI36 |
| NG_013358.1:g.138807C>T | |
| NG_013358.2:g.138807C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.1219-6C>T | ENSP00000468516.4:n.1219-6C>T | |
| ENST00000651901.2:c.1153-6C>T | ENSP00000498922.2:n.1153-6C>T | |
| ENST00000698359.1:c.1108-6C>T | ENSP00000513682.1:n.1108-6C>T | |
| ENST00000698360.1:c.1204-6C>T | ENSP00000513683.1:n.1204-6C>T | |
| ENST00000698361.1:c.1269-6C>T | ENSP00000513684.1:n.1269-6C>T | |
| ENST00000698362.1:c.968-6C>T | ENSP00000513685.1:n.968-6C>T | |
| ENST00000698426.1:c.832-6C>T | ENSP00000513713.1:n.832-6C>T | |
| ENST00000698427.1:c.1195-6C>T | ENSP00000513714.1:n.1195-6C>T | |
| ENST00000698428.1:c.832-6C>T | ENSP00000513715.1:n.832-6C>T | |
| ENST00000698429.1:n.1036-6C>T | ||
| ENST00000698430.1:c.1403-6C>T | ||
| ENST00000698431.1:c.890-6C>T | ENSP00000513717.1:n.890-6C>T | |
| ENST00000698432.1:c.962-6C>T | ||
| ENST00000698433.1:n.615-6C>T | ||
| ENST00000244137.12:c.1153-6C>T MANE Select | ENSP00000244137.5:n.1153-6C>T | |
| ENST00000588328.6:c.1208-6C>T | ||
| ENST00000590731.6:n.828-6C>T | ||
| ENST00000651901.1:c.1149-6C>T | ||
| ENST00000244137.11:c.1153-6C>T | ENSP00000244137.5:n.1153-6C>T | |
| ENST00000397032.8:c.1030-6C>T | ENSP00000380226.3:n.1030-6C>T | |
| ENST00000436370.7:c.961-6C>T | ENSP00000391890.2:n.961-6C>T | |
| ENST00000591968.1:n.225-6C>T | ||
| ENST00000593085.1:n.1034C>T | ||
| NM_000285.3:c.1153-6C>T | NP_000276.2:n.1153-6C>T | |
| NM_001166056.1:c.1030-6C>T | NP_001159528.1:n.1030-6C>T | |
| NM_001166057.1:c.961-6C>T | NP_001159529.1:n.961-6C>T | |
| NM_000285.4:c.1153-6C>T MANE Select | NP_000276.2:n.1153-6C>T | |
| NM_001166056.2:c.1030-6C>T | NP_001159528.1:n.1030-6C>T | |
| NM_001166057.2:c.961-6C>T | NP_001159529.1:n.961-6C>T |