Linked Data
ClinVar Variation Id:
295362
ClinVar RCV Id:
RCV000317981
dbSNP Id:
rs191112278
gnomAD v2:
1-213070371-C-T
gnomAD v3:
1-212897029-C-T
gnomAD v4:
1-212897029-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212897029C>T , CM000663.2:g.212897029C>T | GRCh38 |
| NC_000001.10:g.213070371C>T , CM000663.1:g.213070371C>T | GRCh37 |
| NC_000001.9:g.211136994C>T | NCBI36 |
| NG_028131.1:g.43775C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366971.9:c.*1739C>T MANE Select | ENSP00000355938.4:n.*1739C>T | |
| ENST00000366971.8:c.*1739C>T | ENSP00000355938.4:n.*1739C>T | |
| NM_014053.3:c.*1739C>T | NP_054772.1:n.*1739C>T | |
| NM_014053.4:c.*1739C>T MANE Select | NP_054772.1:n.*1739C>T |