Linked Data
ClinVar Variation Id:
194107
dbSNP Id:
rs794727073
gnomAD v2:
16-5133681-A-G
gnomAD v3:
16-5083680-A-G
gnomAD v4:
16-5083680-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5083680A>G , CM000678.2:g.5083680A>G | GRCh38 |
| NC_000016.9:g.5133681A>G , CM000678.1:g.5133681A>G | GRCh37 |
| NC_000016.8:g.5073682A>G | NCBI36 |
| NG_009202.1:g.16872A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.3324-2A>G | ||
| ENST00000682020.1:c.594-2A>G | ENSP00000508075.1:n.594-2A>G | |
| ENST00000682206.1:c.*283-2A>G | ENSP00000508285.1:n.*283-2A>G | |
| ENST00000682314.1:n.2242A>G | ||
| ENST00000682327.1:c.660-2A>G | ENSP00000507058.1:n.660-2A>G | |
| ENST00000682349.1:n.3330-2A>G | ||
| ENST00000682703.1:n.5162A>G | ||
| ENST00000682797.1:c.*280-2A>G | ENSP00000507582.1:n.*280-2A>G | |
| ENST00000682985.1:c.699-2A>G | ENSP00000507598.1:n.699-2A>G | |
| ENST00000683433.1:c.447-2A>G | ENSP00000507463.1:n.447-2A>G | |
| ENST00000683685.1:n.3068A>G | ||
| ENST00000683710.1:c.*1155-2A>G | ENSP00000506785.1:n.*1155-2A>G | |
| ENST00000683739.1:c.855-2A>G | ENSP00000507002.1:n.855-2A>G | |
| ENST00000683772.1:n.2238A>G | ||
| ENST00000684008.1:c.1126-2A>G | ENSP00000507962.1:n.1126-2A>G | |
| ENST00000684190.1:c.1149-2A>G | ENSP00000507554.1:n.1149-2A>G | |
| ENST00000684335.1:c.1077-2A>G | ENSP00000508112.1:n.1077-2A>G | |
| ENST00000262374.10:c.1188-2A>G MANE Select | ENSP00000262374.5:n.1188-2A>G | |
| ENST00000650085.1:n.2012-2A>G | ||
| ENST00000262374.9:c.1188-2A>G | ENSP00000262374.4:n.1188-2A>G | |
| ENST00000544428.1:c.855-2A>G | ENSP00000440019.1:n.855-2A>G | |
| ENST00000588623.5:c.855-2A>G | ENSP00000468118.1:n.855-2A>G | |
| ENST00000591822.5:c.*1089-2A>G | ENSP00000467865.1:n.*1089-2A>G | |
| NM_019109.4:c.1188-2A>G | NP_061982.3:n.1188-2A>G | |
| XM_011522565.1:c.855-2A>G | XP_011520867.1:n.855-2A>G | |
| NM_001330504.1:c.855-2A>G | NP_001317433.1:n.855-2A>G | |
| XM_017023457.2:c.1149-2A>G | XP_016878946.1:n.1149-2A>G | |
| XM_017023458.1:c.855-2A>G | XP_016878947.1:n.855-2A>G | |
| XR_932882.3:n.1217-2A>G | ||
| NM_019109.5:c.1188-2A>G MANE Select | NP_061982.3:n.1188-2A>G | |
| NM_001330504.2:c.855-2A>G | NP_001317433.1:n.855-2A>G |