Linked Data
ClinVar Variation Id:
1994330
ClinVar RCV Id:
RCV002806773
gnomAD v3:
12-13564156-G-A
gnomAD v4:
12-13564156-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13564156G>A , CM000674.2:g.13564156G>A | GRCh38 |
| NC_000012.11:g.13717090G>A , CM000674.1:g.13717090G>A | GRCh37 |
| NC_000012.10:g.13608357G>A | NCBI36 |
| NG_031854.1:g.420933C>T | |
| NG_031854.2:g.422857C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.3082C>T MANE Select | ENSP00000477455.1:p.Pro1028Ser | |
| ENST00000637214.1:c.69+44447C>T | ENSP00000489997.1:n.69+44447C>T | |
| ENST00000609686.3:c.3082C>T | ENSP00000477455.1:p.Pro1028Ser | |
| ENST00000628166.1:n.1342C>T | ||
| NM_000834.3:c.3082C>T | NP_000825.2:p.Pro1028Ser | |
| XM_005253351.2:c.868C>T | XP_005253408.1:p.Pro290Ser | |
| XM_011520628.1:c.3082C>T | XP_011518930.1:p.Pro1028Ser | |
| XM_011520629.1:c.3082C>T | XP_011518931.1:p.Pro1028Ser | |
| XM_011520630.1:c.3082C>T | XP_011518932.1:p.Pro1028Ser | |
| NM_000834.4:c.3082C>T | NP_000825.2:p.Pro1028Ser | |
| XM_005253351.3:c.868C>T | XP_005253408.1:p.Pro290Ser | |
| XM_011520628.2:c.3082C>T | XP_011518930.1:p.Pro1028Ser | |
| XM_011520629.2:c.3082C>T | XP_011518931.1:p.Pro1028Ser | |
| XM_017019219.2:c.3082C>T | XP_016874708.1:p.Pro1028Ser | |
| NM_000834.5:c.3082C>T MANE Select | NP_000825.2:p.Pro1028Ser |