Linked Data
ClinVar Variation Id:
2184552
ClinVar RCV Id:
RCV002603360
dbSNP Id:
rs1287764063
gnomAD v2:
1-235827373-C-A
gnomAD v4:
1-235664073-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235664073C>A , CM000663.2:g.235664073C>A | GRCh38 |
| NC_000001.10:g.235827373C>A , CM000663.1:g.235827373C>A | GRCh37 |
| NC_000001.9:g.233893996C>A | NCBI36 |
| NG_007397.1:g.224568G>T , LRG_143:g.224568G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.2997G>T | ||
| ENST00000697178.1:c.*7182-18G>T | ENSP00000513163.1:n.*7182-18G>T | |
| ENST00000697235.1:c.1746-18G>T | ENSP00000513202.1:n.1746-18G>T | |
| ENST00000697236.1:c.4660-18G>T | ENSP00000513203.1:n.4660-18G>T | |
| ENST00000697237.1:c.1907-18G>T | ||
| ENST00000697238.1:n.350-18G>T | ||
| ENST00000697239.1:n.590-18G>T | ||
| ENST00000697240.1:c.3263-18G>T | ENSP00000513205.1:n.3263-18G>T | |
| ENST00000389793.7:c.11196-18G>T MANE Select | ENSP00000374443.2:n.11196-18G>T | |
| ENST00000389793.6:c.11196-18G>T | ENSP00000374443.2:n.11196-18G>T | |
| ENST00000389794.7:c.*6620-18G>T | ENSP00000374444.4:n.*6620-18G>T | |
| ENST00000473037.5:n.6186-18G>T | ||
| NM_000081.3:c.11196-18G>T , LRG_143t1:c.11196-18G>T | NP_000072.2:n.11196-18G>T | |
| NM_001301365.1:c.11196-18G>T , LRG_143t2:c.11196-18G>T | NP_001288294.1:n.11196-18G>T | |
| XM_011544031.1:c.11358-18G>T | XP_011542333.1:n.11358-18G>T | |
| XM_011544032.1:c.11358-18G>T | XP_011542334.1:n.11358-18G>T | |
| XM_011544033.1:c.11358-18G>T | XP_011542335.1:n.11358-18G>T | |
| XM_011544034.1:c.11220-18G>T | XP_011542336.1:n.11220-18G>T | |
| XM_011544036.1:c.9021-18G>T | XP_011542338.1:n.9021-18G>T | |
| XM_011544033.2:c.11358-18G>T | XP_011542335.1:n.11358-18G>T | |
| XM_011544036.2:c.9021-18G>T | XP_011542338.1:n.9021-18G>T | |
| XM_017000150.1:c.11127-18G>T | XP_016855639.1:n.11127-18G>T | |
| NM_000081.4:c.11196-18G>T MANE Select | NP_000072.2:n.11196-18G>T |