Linked Data
ClinVar Variation Id:
342429
ClinVar RCV Id:
RCV000298801
dbSNP Id:
rs886057716
gnomAD v2:
3-10192898-G-A
gnomAD v3:
3-10151214-G-A
gnomAD v4:
3-10151214-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10151214G>A , CM000665.2:g.10151214G>A | GRCh38 |
| NC_000003.11:g.10192898G>A , CM000665.1:g.10192898G>A | GRCh37 |
| NC_000003.10:g.10167898G>A | NCBI36 |
| NG_008212.3:g.14580G>A , LRG_322:g.14580G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*1568G>A | ENSP00000512434.1:n.*1568G>A | |
| ENST00000696143.1:c.2027G>A | ENSP00000512435.1:n.2027G>A | |
| ENST00000696153.1:c.*1249G>A | ENSP00000512444.1:n.*1249G>A | |
| ENST00000256474.3:c.*1249G>A MANE Select | ENSP00000256474.3:n.*1249G>A | |
| ENST00000256474.2:c.*1249G>A | ENSP00000256474.2:n.*1249G>A | |
| ENST00000345392.2:c.*1249G>A | ENSP00000344757.2:n.*1249G>A | |
| NM_000551.3:c.*1249G>A , LRG_322t1:c.*1249G>A | NP_000542.1:n.*1249G>A | |
| NM_198156.2:c.*1249G>A | NP_937799.1:n.*1249G>A | |
| NM_001354723.1:c.*1445G>A | NP_001341652.1:n.*1445G>A | |
| NM_000551.4:c.*1249G>A MANE Select | NP_000542.1:n.*1249G>A | |
| NM_001354723.2:c.*1445G>A | NP_001341652.1:n.*1445G>A | |
| NM_198156.3:c.*1249G>A | NP_937799.1:n.*1249G>A |