Linked Data
ClinVar Variation Id:
372052
dbSNP Id:
rs1057517630
gnomAD v2:
10-89717784-C-G
gnomAD v3:
10-87958027-C-G
gnomAD v4:
10-87958027-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87958027C>G , CM000672.2:g.87958027C>G | GRCh38 |
| NC_000010.10:g.89717784C>G , CM000672.1:g.89717784C>G | GRCh37 |
| NC_000010.9:g.89707764C>G | NCBI36 |
| NG_007466.2:g.99589C>G , LRG_311:g.99589C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.801+8C>G | ENSP00000514759.2:n.801+8C>G | |
| ENST00000710265.1:c.801+8C>G | ENSP00000518161.1:n.801+8C>G | |
| ENST00000472832.3:c.801+8C>G | ENSP00000483066.2:n.801+8C>G | |
| ENST00000688158.2:n.1536+8C>G | ||
| ENST00000688922.2:c.*631+8C>G | ENSP00000508742.2:n.*631+8C>G | |
| ENST00000700021.1:c.756+8C>G | ENSP00000514757.1:n.756+8C>G | |
| ENST00000700022.1:c.*140+8C>G | ENSP00000514758.1:n.*140+8C>G | |
| ENST00000700023.1:n.1959+8C>G | ||
| ENST00000700024.1:n.2193+8C>G | ||
| ENST00000700025.1:n.1570+8C>G | ||
| ENST00000700026.1:n.438+8C>G | ||
| ENST00000700029.1:c.635+8C>G | ||
| ENST00000706954.1:c.801+8C>G | ENSP00000516674.1:n.801+8C>G | |
| ENST00000706955.1:c.*836+8C>G | ENSP00000516675.1:n.*836+8C>G | |
| ENST00000686459.1:c.*387+8C>G | ENSP00000508909.1:n.*387+8C>G | |
| ENST00000688158.1:c.*912+8C>G | ENSP00000509254.1:n.*912+8C>G | |
| ENST00000688308.1:c.801+8C>G | ENSP00000508752.1:n.801+8C>G | |
| ENST00000688922.1:c.722+8C>G | ||
| ENST00000693560.1:c.1320+8C>G | ENSP00000509861.1:n.1320+8C>G | |
| ENST00000371953.8:c.801+8C>G MANE Select | ENSP00000361021.3:n.801+8C>G | |
| ENST00000371953.7:c.801+8C>G | ENSP00000361021.3:n.801+8C>G | |
| ENST00000472832.2:c.228+8C>G | ENSP00000483066.1:n.228+8C>G | |
| NM_000314.5:c.801+8C>G | NP_000305.3:n.801+8C>G | |
| NM_000314.6:c.801+8C>G | NP_000305.3:n.801+8C>G | |
| NM_001304717.2:c.1320+8C>G | NP_001291646.2:n.1320+8C>G | |
| NM_001304718.1:c.210+8C>G | NP_001291647.1:n.210+8C>G | |
| XM_006717926.2:c.756+8C>G | XP_006717989.1:n.756+8C>G | |
| XM_011539981.1:c.801+8C>G | XP_011538283.1:n.801+8C>G | |
| XM_011539982.1:c.705+8C>G | XP_011538284.1:n.705+8C>G | |
| XR_945791.1:n.1371+8C>G | ||
| NM_000314.7:c.801+8C>G | NP_000305.3:n.801+8C>G | |
| NM_001304717.5:c.1320+8C>G | NP_001291646.4:n.1320+8C>G | |
| NM_001304718.2:c.210+8C>G | NP_001291647.1:n.210+8C>G | |
| NM_000314.8:c.801+8C>G MANE Select | NP_000305.3:n.801+8C>G |