Linked Data
ClinVar Variation Id:
301485
ClinVar RCV Id:
RCV000406211
dbSNP Id:
rs886047437
gnomAD v2:
10-89727432-A-G
gnomAD v3:
10-87967675-A-G
gnomAD v4:
10-87967675-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87967675A>G , CM000672.2:g.87967675A>G | GRCh38 |
| NC_000010.10:g.89727432A>G , CM000672.1:g.89727432A>G | GRCh37 |
| NC_000010.9:g.89717412A>G | NCBI36 |
| NG_007466.2:g.109237A>G , LRG_311:g.109237A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710265.1:c.*2444A>G | ENSP00000518161.1:n.*2444A>G | |
| ENST00000688158.2:n.4150A>G | ||
| ENST00000706954.1:c.*2203A>G | ENSP00000516674.1:n.*2203A>G | |
| ENST00000706955.1:c.*3450A>G | ENSP00000516675.1:n.*3450A>G | |
| ENST00000688158.1:c.*3526A>G | ENSP00000509254.1:n.*3526A>G | |
| ENST00000693560.1:c.*2203A>G | ENSP00000509861.1:n.*2203A>G | |
| ENST00000371953.8:c.*2203A>G MANE Select | ENSP00000361021.3:n.*2203A>G | |
| ENST00000371953.7:c.*2203A>G | ENSP00000361021.3:n.*2203A>G | |
| NM_000314.5:c.*2203A>G | NP_000305.3:n.*2203A>G | |
| NM_000314.6:c.*2203A>G | NP_000305.3:n.*2203A>G | |
| NM_001304717.2:c.*2203A>G | NP_001291646.2:n.*2203A>G | |
| NM_001304718.1:c.*2203A>G | NP_001291647.1:n.*2203A>G | |
| XM_006717926.2:c.*2203A>G | XP_006717989.1:n.*2203A>G | |
| XM_011539982.1:c.*2203A>G | XP_011538284.1:n.*2203A>G | |
| XR_945791.1:n.3985A>G | ||
| NM_000314.7:c.*2203A>G | NP_000305.3:n.*2203A>G | |
| NM_001304717.5:c.*2203A>G | NP_001291646.4:n.*2203A>G | |
| NM_001304718.2:c.*2203A>G | NP_001291647.1:n.*2203A>G | |
| NM_000314.8:c.*2203A>G MANE Select | NP_000305.3:n.*2203A>G |