Linked Data
ClinVar Variation Id:
309820
dbSNP Id:
rs143315090
gnomAD v2:
12-56391043-A-T
gnomAD v3:
12-55997259-A-T
gnomAD v4:
12-55997259-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55997259A>T , CM000674.2:g.55997259A>T | GRCh38 |
| NC_000012.11:g.56391043A>T , CM000674.1:g.56391043A>T | GRCh37 |
| NC_000012.10:g.54677310A>T | NCBI36 |
| NG_008136.1:g.5001A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266971.7:c.-200A>T | ENSP00000266971.3:n.-200A>T | |
| ENST00000356124.8:c.-91A>T | ENSP00000348440.4:n.-91A>T | |
| ENST00000550121.5:n.1A>T | ||
| ENST00000551698.5:n.1A>T | ||
| ENST00000552363.5:n.1A>T | ||
| NM_000456.2:c.-326A>T | NP_000447.2:n.-326A>T | |
| NM_001032386.1:c.-200A>T | NP_001027558.1:n.-200A>T | |
| NM_001032387.1:c.-91A>T | NP_001027559.1:n.-91A>T | |
| XM_017019905.2:c.-368A>T | XP_016875394.1:n.-368A>T | |
| XM_017019907.2:c.-458A>T | XP_016875396.1:n.-458A>T | |
| XM_024449167.1:c.-242A>T | XP_024304935.1:n.-242A>T |