Linked Data
ClinVar Variation Id:
1259974
ClinVar RCV Id:
RCV001666891
dbSNP Id:
rs73603086
gnomAD v2:
11-134132334-G-C
gnomAD v3:
11-134262440-G-C
gnomAD v4:
11-134262440-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134262440G>C , CM000673.2:g.134262440G>C | GRCh38 |
| NC_000011.9:g.134132334G>C , CM000673.1:g.134132334G>C | GRCh37 |
| NC_000011.8:g.133637544G>C | NCBI36 |
| NG_015842.1:g.13901G>C , LRG_448:g.13901G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281182.9:c.1093-80G>C MANE Select | ENSP00000281182.5:n.1093-80G>C | |
| ENST00000281182.8:c.1093-80G>C | ENSP00000281182.4:n.1093-80G>C | |
| ENST00000374752.6:c.712-80G>C | ENSP00000363884.4:n.712-80G>C | |
| ENST00000524426.5:c.*823-80G>C | ENSP00000431310.1:n.*823-80G>C | |
| ENST00000524502.2:n.93-80G>C | ||
| ENST00000524547.5:n.696-80G>C | ||
| ENST00000526026.5:c.*782-80G>C | ENSP00000431532.1:n.*782-80G>C | |
| ENST00000531338.5:n.1257G>C | ||
| ENST00000533387.5:n.2152-80G>C | ||
| NM_014384.2:c.1093-80G>C , LRG_448t1:c.1093-80G>C | NP_055199.1:n.1093-80G>C | |
| XM_005271501.2:c.1093-80G>C | XP_005271558.1:n.1093-80G>C | |
| XM_011542750.1:c.1093-80G>C | XP_011541052.1:n.1093-80G>C | |
| XR_947819.1:n.1157-80G>C | ||
| XR_947820.1:n.1465G>C | ||
| XR_947821.1:n.1302-80G>C | ||
| XR_947822.1:n.987-80G>C | ||
| XR_947823.1:n.1143-80G>C | ||
| XM_005271505.4:c.*1358-80G>C | XP_005271562.1:n.*1358-80G>C | |
| XM_011542750.3:c.1093-80G>C | XP_011541052.1:n.1093-80G>C | |
| XM_017017542.2:c.1093-80G>C | XP_016873031.1:n.1093-80G>C | |
| XM_017017543.2:c.1093-80G>C | XP_016873032.1:n.1093-80G>C | |
| XM_017017544.2:c.*62-80G>C | XP_016873033.1:n.*62-80G>C | |
| XM_017017545.2:c.*225G>C | XP_016873034.1:n.*225G>C | |
| XM_017017546.2:c.799-80G>C | XP_016873035.1:n.799-80G>C | |
| XM_017017547.2:c.799-80G>C | XP_016873036.1:n.799-80G>C | |
| XM_017017548.2:c.*1729-80G>C | XP_016873037.1:n.*1729-80G>C | |
| XM_017017549.2:c.*1503-80G>C | XP_016873038.1:n.*1503-80G>C | |
| XM_024448437.1:c.*160G>C | XP_024304205.1:n.*160G>C | |
| XM_024448438.1:c.712-80G>C | XP_024304206.1:n.712-80G>C | |
| NM_014384.3:c.1093-80G>C MANE Select | NP_055199.1:n.1093-80G>C |