Linked Data
ClinVar Variation Id:
300465
dbSNP Id:
rs371286324
ExAC:
10:73569678 G / A
gnomAD v2:
10-73569678-G-A
gnomAD v3:
10-71809921-G-A
gnomAD v4:
10-71809921-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71809921G>A , CM000672.2:g.71809921G>A | GRCh38 |
| NC_000010.10:g.73569678G>A , CM000672.1:g.73569678G>A | GRCh37 |
| NC_000010.9:g.73239684G>A | NCBI36 |
| NG_008835.1:g.417975G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.8824G>A MANE Select | ENSP00000224721.9:p.Asp2942Asn | |
| ENST00000642965.1:c.2757G>A | ENSP00000495222.1:n.2757G>A | |
| ENST00000647092.1:c.2421G>A | ENSP00000495176.1:n.2421G>A | |
| ENST00000224721.10:c.8839G>A | ENSP00000224721.8:p.Asp2947Asn | |
| ENST00000398788.4:c.2104G>A | ENSP00000381768.3:p.Asp702Asn | |
| ENST00000475158.1:n.2360G>A | ||
| ENST00000619887.4:c.2104G>A | ENSP00000478374.1:p.Asp702Asn | |
| ENST00000622827.4:c.8824G>A | ENSP00000483211.1:p.Asp2942Asn | |
| NM_001171933.1:c.2104G>A | NP_001165404.1:p.Asp702Asn | |
| NM_001171934.1:c.2104G>A | NP_001165405.1:p.Asp702Asn | |
| NM_022124.5:c.8824G>A | NP_071407.4:p.Asp2942Asn | |
| XM_006717940.2:c.9019G>A | XP_006718003.1:p.Asp3007Asn | |
| XM_006717942.2:c.8953G>A | XP_006718005.1:p.Asp2985Asn | |
| XM_011540039.1:c.9016G>A | XP_011538341.1:p.Asp3006Asn | |
| XM_011540040.1:c.9013G>A | XP_011538342.1:p.Asp3005Asn | |
| XM_011540041.1:c.8959G>A | XP_011538343.1:p.Asp2987Asn | |
| XM_011540042.1:c.8929G>A | XP_011538344.1:p.Asp2977Asn | |
| XM_011540043.1:c.9019G>A | XP_011538345.1:p.Asp3007Asn | |
| XM_011540044.1:c.8884G>A | XP_011538346.1:p.Asp2962Asn | |
| XM_011540045.1:c.9019G>A | XP_011538347.1:p.Asp3007Asn | |
| XM_011540046.1:c.8479G>A | XP_011538348.1:p.Asp2827Asn | |
| XM_011540047.1:c.7837G>A | XP_011538349.1:p.Asp2613Asn | |
| XM_011540052.1:c.5347G>A | XP_011538354.1:p.Asp1783Asn | |
| NM_022124.6:c.8824G>A MANE Select | NP_071407.4:p.Asp2942Asn |