Linked Data
ClinVar Variation Id:
342427
ClinVar RCV Id:
RCV000352519
dbSNP Id:
rs528852958
gnomAD v2:
3-10192821-C-T
gnomAD v3:
3-10151137-C-T
gnomAD v4:
3-10151137-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10151137C>T , CM000665.2:g.10151137C>T | GRCh38 |
| NC_000003.11:g.10192821C>T , CM000665.1:g.10192821C>T | GRCh37 |
| NC_000003.10:g.10167821C>T | NCBI36 |
| NG_008212.3:g.14503C>T , LRG_322:g.14503C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*1491C>T | ENSP00000512434.1:n.*1491C>T | |
| ENST00000696143.1:c.1950C>T | ENSP00000512435.1:n.1950C>T | |
| ENST00000696153.1:c.*1172C>T | ENSP00000512444.1:n.*1172C>T | |
| ENST00000256474.3:c.*1172C>T MANE Select | ENSP00000256474.3:n.*1172C>T | |
| ENST00000256474.2:c.*1172C>T | ENSP00000256474.2:n.*1172C>T | |
| ENST00000345392.2:c.*1172C>T | ENSP00000344757.2:n.*1172C>T | |
| NM_000551.3:c.*1172C>T , LRG_322t1:c.*1172C>T | NP_000542.1:n.*1172C>T | |
| NM_198156.2:c.*1172C>T | NP_937799.1:n.*1172C>T | |
| NM_001354723.1:c.*1368C>T | NP_001341652.1:n.*1368C>T | |
| NM_000551.4:c.*1172C>T MANE Select | NP_000542.1:n.*1172C>T | |
| NM_001354723.2:c.*1368C>T | NP_001341652.1:n.*1368C>T | |
| NM_198156.3:c.*1172C>T | NP_937799.1:n.*1172C>T |