Linked Data
ClinVar Variation Id:
342433
ClinVar RCV Id:
RCV000357870
dbSNP Id:
rs886057719
gnomAD v4:
3-10151312-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10151312C>A , CM000665.2:g.10151312C>A | GRCh38 |
| NC_000003.11:g.10192996C>A , CM000665.1:g.10192996C>A | GRCh37 |
| NC_000003.10:g.10167996C>A | NCBI36 |
| NG_008212.3:g.14678C>A , LRG_322:g.14678C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*1666C>A | ENSP00000512434.1:n.*1666C>A | |
| ENST00000696143.1:c.2125C>A | ENSP00000512435.1:n.2125C>A | |
| ENST00000696153.1:c.*1347C>A | ENSP00000512444.1:n.*1347C>A | |
| ENST00000256474.3:c.*1347C>A MANE Select | ENSP00000256474.3:n.*1347C>A | |
| ENST00000256474.2:c.*1347C>A | ENSP00000256474.2:n.*1347C>A | |
| ENST00000345392.2:c.*1347C>A | ENSP00000344757.2:n.*1347C>A | |
| NM_000551.3:c.*1347C>A , LRG_322t1:c.*1347C>A | NP_000542.1:n.*1347C>A | |
| NM_198156.2:c.*1347C>A | NP_937799.1:n.*1347C>A | |
| NM_001354723.1:c.*1543C>A | NP_001341652.1:n.*1543C>A | |
| NM_000551.4:c.*1347C>A MANE Select | NP_000542.1:n.*1347C>A | |
| NM_001354723.2:c.*1543C>A | NP_001341652.1:n.*1543C>A | |
| NM_198156.3:c.*1347C>A | NP_937799.1:n.*1347C>A |