Linked Data
ClinVar Variation Id:
1048803
ClinVar RCV Id:
RCV001354055
dbSNP Id:
rs3397
gnomAD v2:
1-12267292-C-T
gnomAD v3:
1-12207235-C-T
gnomAD v4:
1-12207235-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12207235C>T , CM000663.2:g.12207235C>T | GRCh38 |
| NC_000001.10:g.12267292C>T , CM000663.1:g.12267292C>T | GRCh37 |
| NC_000001.9:g.12189879C>T | NCBI36 |
| NG_029791.1:g.45233C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376259.7:c.*215C>T MANE Select | ENSP00000365435.3:n.*215C>T | |
| ENST00000376259.6:c.*215C>T | ENSP00000365435.3:n.*215C>T | |
| ENST00000492361.1:n.1590C>T | ||
| NM_001066.2:c.*215C>T | NP_001057.1:n.*215C>T | |
| XM_011542060.1:c.*215C>T | XP_011540362.1:n.*215C>T | |
| XM_011542061.1:c.*215C>T | XP_011540363.1:n.*215C>T | |
| XM_011542062.1:c.1649C>T | XP_011540364.1:n.1649C>T | |
| XM_011542063.1:c.*215C>T | XP_011540365.1:n.*215C>T | |
| XM_011542060.2:c.*215C>T | XP_011540362.1:n.*215C>T | |
| XM_011542063.2:c.*215C>T | XP_011540365.1:n.*215C>T | |
| XM_017002214.1:c.*215C>T | XP_016857703.1:n.*215C>T | |
| XM_017002215.1:c.*215C>T | XP_016857704.1:n.*215C>T | |
| NM_001066.3:c.*215C>T MANE Select | NP_001057.1:n.*215C>T |