Linked Data
ClinVar Variation Id:
365269
ClinVar RCV Id:
RCV000368398
dbSNP Id:
rs886063535
gnomAD v2:
9-134378295-G-T
gnomAD v3:
9-131502908-G-T
gnomAD v4:
9-131502908-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131502908G>T , CM000671.2:g.131502908G>T | GRCh38 |
| NC_000009.11:g.134378295G>T , CM000671.1:g.134378295G>T | GRCh37 |
| NC_000009.10:g.133368116G>T | NCBI36 |
| NG_008896.1:g.5007G>T | |
| NG_008896.2:g.5007G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.-206G>T | ENSP00000343034.7:n.-206G>T | |
| ENST00000372228.9:c.-196G>T | ENSP00000361302.3:n.-196G>T | |
| ENST00000676640.1:c.-436G>T | ENSP00000503281.1:n.-436G>T | |
| ENST00000677216.1:c.-288G>T | ENSP00000503772.1:n.-288G>T | |
| ENST00000678768.1:n.24G>T | ||
| ENST00000404875.6:c.-288G>T | ENSP00000384531.2:n.-288G>T | |
| ENST00000423007.5:c.-436G>T | ENSP00000404119.1:n.-436G>T | |
| NM_001077365.1:c.-196G>T | NP_001070833.1:n.-196G>T | |
| NM_001077366.1:c.-206G>T | NP_001070834.1:n.-206G>T | |
| NM_001136113.1:c.-436G>T | NP_001129585.1:n.-436G>T | |
| NM_001136114.1:c.-288G>T | NP_001129586.1:n.-288G>T | |
| NM_007171.3:c.-196G>T | NP_009102.3:n.-196G>T | |
| XM_005272158.1:c.-206G>T | XP_005272215.1:n.-206G>T | |
| XM_005272159.1:c.-288G>T | XP_005272216.1:n.-288G>T | |
| XM_011518140.1:c.-196G>T | XP_011516442.1:n.-196G>T | |
| XM_011518141.1:c.-196G>T | XP_011516443.1:n.-196G>T | |
| XM_011518143.1:c.-196G>T | XP_011516445.1:n.-196G>T | |
| XM_011518146.1:c.-196G>T | XP_011516448.1:n.-196G>T | |
| NM_001353193.1:c.-436G>T | NP_001340122.1:n.-436G>T | |
| NM_001353194.1:c.-446G>T | NP_001340123.1:n.-446G>T | |
| NM_001353195.1:c.-440G>T | NP_001340124.1:n.-440G>T | |
| NM_001353196.1:c.-196G>T | NP_001340125.1:n.-196G>T | |
| NM_001353197.1:c.-206G>T | NP_001340126.1:n.-206G>T | |
| NM_001353198.1:c.-907G>T | NP_001340127.1:n.-907G>T | |
| NM_001353199.1:c.-288G>T | NP_001340128.1:n.-288G>T | |
| NM_001353200.1:c.-246G>T | NP_001340129.1:n.-246G>T | |
| NR_148391.1:n.7G>T | ||
| NR_148392.1:n.7G>T | ||
| NR_148393.1:n.7G>T | ||
| NR_148394.1:n.7G>T | ||
| NR_148395.1:n.7G>T | ||
| NR_148396.1:n.7G>T | ||
| NR_148397.1:n.7G>T | ||
| NR_148398.1:n.7G>T | ||
| NR_148399.1:n.7G>T | ||
| NR_148400.1:n.7G>T | ||
| XM_011518140.2:c.-196G>T | XP_011516442.1:n.-196G>T | |
| XM_011518141.2:c.-196G>T | XP_011516443.1:n.-196G>T | |
| XM_011518143.2:c.-196G>T | XP_011516445.1:n.-196G>T | |
| XR_001746164.1:n.7G>T |