Linked Data
ClinVar Variation Id:
341772
dbSNP Id:
rs201124490
ExAC:
22:41489115 A / G
gnomAD v2:
22-41489115-A-G
gnomAD v3:
22-41093111-A-G
gnomAD v4:
22-41093111-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41093111A>G , CM000684.2:g.41093111A>G | GRCh38 |
| NC_000022.10:g.41489115A>G , CM000684.1:g.41489115A>G | GRCh37 |
| NC_000022.9:g.39819061A>G | NCBI36 |
| NG_009817.1:g.5502A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.94+13A>G | ENSP00000515365.1:n.94+13A>G | |
| ENST00000263253.9:c.94+13A>G MANE Select | ENSP00000263253.7:n.94+13A>G | |
| ENST00000674155.1:c.94+13A>G | ENSP00000501078.1:n.94+13A>G | |
| ENST00000263253.8:c.94+13A>G | ENSP00000263253.7:n.94+13A>G | |
| NM_001429.3:c.94+13A>G | NP_001420.2:n.94+13A>G | |
| XM_006724165.2:c.94+13A>G | XP_006724228.1:n.94+13A>G | |
| NM_001362843.1:c.94+13A>G | NP_001349772.1:n.94+13A>G | |
| NM_001429.4:c.94+13A>G MANE Select | NP_001420.2:n.94+13A>G | |
| NM_001362843.2:c.94+13A>G | NP_001349772.1:n.94+13A>G |