Linked Data
ClinVar Variation Id:
316224
dbSNP Id:
rs370370639
ExAC:
15:45879733 A / G
gnomAD v2:
15-45879733-A-G
gnomAD v3:
15-45587535-A-G
gnomAD v4:
15-45587535-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45587535A>G , CM000677.2:g.45587535A>G | GRCh38 |
| NC_000015.9:g.45879733A>G , CM000677.1:g.45879733A>G | GRCh37 |
| NC_000015.8:g.43667025A>G | NCBI36 |
| NG_028194.2:g.5317A>G , LRG_883:g.5317A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220531.9:c.82+10A>G MANE Select | ENSP00000220531.4:n.82+10A>G | |
| ENST00000564310.2:c.15+10A>G | ||
| ENST00000672455.1:c.82+10A>G | ENSP00000500302.1:n.82+10A>G | |
| ENST00000220531.7:c.82+10A>G | ENSP00000220531.3:n.82+10A>G | |
| ENST00000562384.5:c.-80+10A>G | ENSP00000457077.1:n.-80+10A>G | |
| ENST00000564080.1:c.-18+10A>G | ENSP00000455047.1:n.-18+10A>G | |
| ENST00000565216.5:c.82+10A>G | ENSP00000456067.1:n.82+10A>G | |
| ENST00000566184.1:n.147+10A>G | ||
| ENST00000566753.5:c.82+10A>G | ENSP00000457478.1:n.82+10A>G | |
| ENST00000567461.5:c.-68+10A>G | ENSP00000456152.1:n.-68+10A>G | |
| ENST00000567523.5:c.82+10A>G | ENSP00000456624.1:n.82+10A>G | |
| ENST00000567740.5:n.312+10A>G | ||
| ENST00000568597.5:c.82+10A>G | ENSP00000454638.1:n.82+10A>G | |
| ENST00000568963.5:c.82+10A>G | ENSP00000454438.1:n.82+10A>G | |
| ENST00000569076.5:c.-44+10A>G | ENSP00000454803.1:n.-44+10A>G | |
| NM_012388.2:c.82+10A>G | NP_036520.1:n.82+10A>G | |
| NM_012388.3:c.82+10A>G , LRG_883t1:c.82+10A>G | NP_036520.1:n.82+10A>G | |
| NR_132351.1:n.403+10A>G | ||
| NR_132352.1:n.403+10A>G | ||
| NR_132353.1:n.403+10A>G | ||
| NR_132354.1:n.403+10A>G | ||
| NR_132355.1:n.403+10A>G | ||
| NM_012388.4:c.82+10A>G MANE Select | NP_036520.1:n.82+10A>G | |
| NR_132351.2:n.147+10A>G | ||
| NR_132352.2:n.147+10A>G | ||
| NR_132355.2:n.147+10A>G |