Linked Data
dbSNP Id:
rs1887582
gnomAD v2:
10-8003333-A-G
gnomAD v3:
10-7961370-A-G
gnomAD v4:
10-7961370-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.7961370A>G , CM000672.2:g.7961370A>G | GRCh38 |
| NC_000010.10:g.8003333A>G , CM000672.1:g.8003333A>G | GRCh37 |
| NC_000010.9:g.8043339A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686593.1:c.414-2550A>G | ENSP00000509355.1:n.414-2550A>G | |
| ENST00000687522.1:c.410-2553A>G | ENSP00000508875.1:n.410-2553A>G | |
| ENST00000687671.1:n.623-2550A>G | ||
| ENST00000690066.1:n.616-2553A>G | ||
| ENST00000692164.1:n.725+2419A>G | ||
| ENST00000692339.1:n.377-2550A>G | ||
| ENST00000344293.6:c.410-2550A>G MANE Select | ENSP00000340271.5:n.410-2550A>G | |
| ENST00000344293.5:c.410-2550A>G | ENSP00000340271.5:n.410-2550A>G | |
| NM_031923.3:c.410-2550A>G | NP_114129.1:n.410-2550A>G | |
| XM_011519741.1:c.641-2553A>G | XP_011518043.1:n.641-2553A>G | |
| XM_011519742.1:c.194-2550A>G | XP_011518044.1:n.194-2550A>G | |
| XM_011519741.2:c.410-2553A>G | XP_011518043.2:n.410-2553A>G | |
| NM_031923.4:c.410-2550A>G MANE Select | NP_114129.1:n.410-2550A>G |