Linked Data
ClinVar Variation Id:
296326
ClinVar RCV Id:
RCV000369629
dbSNP Id:
rs150304907
gnomAD v2:
1-235824965-A-G
gnomAD v3:
1-235661665-A-G
gnomAD v4:
1-235661665-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235661665A>G , CM000663.2:g.235661665A>G | GRCh38 |
| NC_000001.10:g.235824965A>G , CM000663.1:g.235824965A>G | GRCh37 |
| NC_000001.9:g.233891588A>G | NCBI36 |
| NG_007397.1:g.226976T>C , LRG_143:g.226976T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.4500T>C | ||
| ENST00000697178.1:c.*8667T>C | ENSP00000513163.1:n.*8667T>C | |
| ENST00000697235.1:c.3231T>C | ENSP00000513202.1:n.3231T>C | |
| ENST00000697236.1:c.6145T>C | ENSP00000513203.1:n.6145T>C | |
| ENST00000697237.1:c.3392T>C | ||
| ENST00000389793.7:c.*1275T>C MANE Select | ENSP00000374443.2:n.*1275T>C | |
| ENST00000389793.6:c.*1275T>C | ENSP00000374443.2:n.*1275T>C | |
| ENST00000389794.7:c.*8042T>C | ENSP00000374444.4:n.*8042T>C | |
| ENST00000473037.5:n.7671T>C | ||
| NM_000081.3:c.*1275T>C , LRG_143t1:c.*1275T>C | NP_000072.2:n.*1275T>C | |
| NM_001301365.1:c.*1275T>C , LRG_143t2:c.*1275T>C | NP_001288294.1:n.*1275T>C | |
| XM_011544031.1:c.*1275T>C | XP_011542333.1:n.*1275T>C | |
| XM_011544032.1:c.*1275T>C | XP_011542334.1:n.*1275T>C | |
| XM_011544033.1:c.*1275T>C | XP_011542335.1:n.*1275T>C | |
| XM_011544034.1:c.*1275T>C | XP_011542336.1:n.*1275T>C | |
| XM_011544036.1:c.*1275T>C | XP_011542338.1:n.*1275T>C | |
| XM_011544033.2:c.*1275T>C | XP_011542335.1:n.*1275T>C | |
| XM_011544036.2:c.*1275T>C | XP_011542338.1:n.*1275T>C | |
| XM_017000150.1:c.*1275T>C | XP_016855639.1:n.*1275T>C | |
| NM_000081.4:c.*1275T>C MANE Select | NP_000072.2:n.*1275T>C |