Linked Data
ClinVar Variation Id:
262915
dbSNP Id:
rs751211080
gnomAD v4:
20-44418530-C-A
ERepo:
CA10587354/MONDO:0015967/085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44418530C>A , CM000682.2:g.44418530C>A | GRCh38 |
| NC_000020.10:g.43047170C>A , CM000682.1:g.43047170C>A | GRCh37 |
| NC_000020.9:g.42480584C>A | NCBI36 |
| NG_009818.1:g.67730C>A , LRG_483:g.67730C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.670+18C>A MANE Select | ENSP00000315180.4:n.670+18C>A | |
| ENST00000316099.10:c.736+18C>A | ENSP00000312987.3:n.736+18C>A | |
| ENST00000619550.5:c.710+18C>A | ||
| ENST00000683148.1:n.712+18C>A | ||
| ENST00000683657.1:n.1860+18C>A | ||
| ENST00000316099.9:c.736+18C>A | ENSP00000312987.3:n.736+18C>A | |
| ENST00000316099.8:c.736+18C>A | ENSP00000312987.3:n.736+18C>A | |
| ENST00000316673.8:c.670+18C>A | ENSP00000315180.4:n.670+18C>A | |
| ENST00000372920.1:c.*503+18C>A | ENSP00000362011.1:n.*503+18C>A | |
| ENST00000415691.2:c.736+18C>A | ENSP00000412111.1:n.736+18C>A | |
| ENST00000443598.6:c.736+18C>A | ENSP00000410911.2:n.736+18C>A | |
| ENST00000457232.5:c.670+18C>A | ENSP00000396216.1:n.670+18C>A | |
| ENST00000609795.5:c.670+18C>A | ENSP00000476609.1:n.670+18C>A | |
| ENST00000619550.4:c.661+18C>A | ENSP00000481331.1:n.661+18C>A | |
| NM_000457.4:c.736+18C>A , LRG_483t2:c.736+18C>A | NP_000448.3:n.736+18C>A | |
| NM_001030003.2:c.670+18C>A | NP_001025174.1:n.670+18C>A | |
| NM_001030004.2:c.670+18C>A | NP_001025175.1:n.670+18C>A | |
| NM_001258355.1:c.715+18C>A | NP_001245284.1:n.715+18C>A | |
| NM_001287182.1:c.661+18C>A | NP_001274111.1:n.661+18C>A | |
| NM_001287183.1:c.661+18C>A , LRG_483t3:c.661+18C>A | NP_001274112.1:n.661+18C>A | |
| NM_001287184.1:c.661+18C>A | NP_001274113.1:n.661+18C>A | |
| NM_175914.4:c.670+18C>A , LRG_483t1:c.670+18C>A | NP_787110.2:n.670+18C>A | |
| NM_178849.2:c.736+18C>A | NP_849180.1:n.736+18C>A | |
| NM_178850.2:c.736+18C>A | NP_849181.1:n.736+18C>A | |
| XM_005260407.2:c.853+18C>A | XP_005260464.1:n.853+18C>A | |
| XM_011528797.1:c.784+18C>A | XP_011527099.1:n.784+18C>A | |
| XM_011528798.1:c.784+18C>A | XP_011527100.1:n.784+18C>A | |
| XM_005260407.4:c.853+18C>A | XP_005260464.1:n.853+18C>A | |
| NM_001030003.3:c.670+18C>A | NP_001025174.1:n.670+18C>A | |
| NM_001030004.3:c.670+18C>A | NP_001025175.1:n.670+18C>A | |
| NM_001258355.2:c.715+18C>A | NP_001245284.1:n.715+18C>A | |
| NM_001287182.2:c.661+18C>A | NP_001274111.1:n.661+18C>A | |
| NM_001287184.2:c.661+18C>A | NP_001274113.1:n.661+18C>A | |
| NM_178849.3:c.736+18C>A | NP_849180.1:n.736+18C>A | |
| NM_178850.3:c.736+18C>A | NP_849181.1:n.736+18C>A | |
| NM_000457.5:c.736+18C>A | NP_000448.3:n.736+18C>A | |
| NM_000457.6:c.736+18C>A | NP_000448.3:n.736+18C>A | |
| NM_001287183.2:c.661+18C>A | NP_001274112.1:n.661+18C>A | |
| NM_175914.5:c.670+18C>A MANE Select | NP_787110.2:n.670+18C>A |