Linked Data
ClinVar Variation Id:
296327
ClinVar RCV Id:
RCV000406761
dbSNP Id:
rs138320518
gnomAD v2:
1-235825029-C-T
gnomAD v3:
1-235661729-C-T
gnomAD v4:
1-235661729-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235661729C>T , CM000663.2:g.235661729C>T | GRCh38 |
| NC_000001.10:g.235825029C>T , CM000663.1:g.235825029C>T | GRCh37 |
| NC_000001.9:g.233891652C>T | NCBI36 |
| NG_007397.1:g.226912G>A , LRG_143:g.226912G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.4436G>A | ||
| ENST00000697178.1:c.*8603G>A | ENSP00000513163.1:n.*8603G>A | |
| ENST00000697235.1:c.3167G>A | ENSP00000513202.1:n.3167G>A | |
| ENST00000697236.1:c.6081G>A | ENSP00000513203.1:n.6081G>A | |
| ENST00000697237.1:c.3328G>A | ||
| ENST00000389793.7:c.*1211G>A MANE Select | ENSP00000374443.2:n.*1211G>A | |
| ENST00000389793.6:c.*1211G>A | ENSP00000374443.2:n.*1211G>A | |
| ENST00000389794.7:c.*7978G>A | ENSP00000374444.4:n.*7978G>A | |
| ENST00000473037.5:n.7607G>A | ||
| NM_000081.3:c.*1211G>A , LRG_143t1:c.*1211G>A | NP_000072.2:n.*1211G>A | |
| NM_001301365.1:c.*1211G>A , LRG_143t2:c.*1211G>A | NP_001288294.1:n.*1211G>A | |
| XM_011544031.1:c.*1211G>A | XP_011542333.1:n.*1211G>A | |
| XM_011544032.1:c.*1211G>A | XP_011542334.1:n.*1211G>A | |
| XM_011544033.1:c.*1211G>A | XP_011542335.1:n.*1211G>A | |
| XM_011544034.1:c.*1211G>A | XP_011542336.1:n.*1211G>A | |
| XM_011544036.1:c.*1211G>A | XP_011542338.1:n.*1211G>A | |
| XM_011544033.2:c.*1211G>A | XP_011542335.1:n.*1211G>A | |
| XM_011544036.2:c.*1211G>A | XP_011542338.1:n.*1211G>A | |
| XM_017000150.1:c.*1211G>A | XP_016855639.1:n.*1211G>A | |
| NM_000081.4:c.*1211G>A MANE Select | NP_000072.2:n.*1211G>A |