Linked Data
ClinVar Variation Id:
296341
ClinVar RCV Id:
RCV000394637
dbSNP Id:
rs537857840
gnomAD v2:
1-235826146-T-C
gnomAD v3:
1-235662846-T-C
gnomAD v4:
1-235662846-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235662846T>C , CM000663.2:g.235662846T>C | GRCh38 |
| NC_000001.10:g.235826146T>C , CM000663.1:g.235826146T>C | GRCh37 |
| NC_000001.9:g.233892769T>C | NCBI36 |
| NG_007397.1:g.225795A>G , LRG_143:g.225795A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.3319A>G | ||
| ENST00000697178.1:c.*7486A>G | ENSP00000513163.1:n.*7486A>G | |
| ENST00000697235.1:c.2050A>G | ENSP00000513202.1:n.2050A>G | |
| ENST00000697236.1:c.4964A>G | ENSP00000513203.1:n.4964A>G | |
| ENST00000697237.1:c.2211A>G | ||
| ENST00000697238.1:n.654A>G | ||
| ENST00000697239.1:n.894A>G | ||
| ENST00000697240.1:c.3567A>G | ENSP00000513205.1:n.3567A>G | |
| ENST00000389793.7:c.*94A>G MANE Select | ENSP00000374443.2:n.*94A>G | |
| ENST00000389793.6:c.*94A>G | ENSP00000374443.2:n.*94A>G | |
| ENST00000389794.7:c.*6924A>G | ENSP00000374444.4:n.*6924A>G | |
| ENST00000473037.5:n.6490A>G | ||
| NM_000081.3:c.*94A>G , LRG_143t1:c.*94A>G | NP_000072.2:n.*94A>G | |
| NM_001301365.1:c.*94A>G , LRG_143t2:c.*94A>G | NP_001288294.1:n.*94A>G | |
| XM_011544031.1:c.*94A>G | XP_011542333.1:n.*94A>G | |
| XM_011544032.1:c.*94A>G | XP_011542334.1:n.*94A>G | |
| XM_011544033.1:c.*94A>G | XP_011542335.1:n.*94A>G | |
| XM_011544034.1:c.*94A>G | XP_011542336.1:n.*94A>G | |
| XM_011544036.1:c.*94A>G | XP_011542338.1:n.*94A>G | |
| XM_011544033.2:c.*94A>G | XP_011542335.1:n.*94A>G | |
| XM_011544036.2:c.*94A>G | XP_011542338.1:n.*94A>G | |
| XM_017000150.1:c.*94A>G | XP_016855639.1:n.*94A>G | |
| NM_000081.4:c.*94A>G MANE Select | NP_000072.2:n.*94A>G |