Linked Data
ClinVar Variation Id:
348276
ClinVar RCV Id:
RCV000260580
dbSNP Id:
rs113950388
gnomAD v2:
4-186070654-C-T
gnomAD v3:
4-185149500-C-T
gnomAD v4:
4-185149500-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185149500C>T , CM000666.2:g.185149500C>T | GRCh38 |
| NC_000004.11:g.186070654C>T , CM000666.1:g.186070654C>T | GRCh37 |
| NC_000004.10:g.186307648C>T | NCBI36 |
| NG_013001.1:g.11238C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.*2529C>T MANE Select | ENSP00000281456.5:n.*2529C>T | |
| ENST00000281456.10:c.*2529C>T | ENSP00000281456.5:n.*2529C>T | |
| NM_001151.3:c.*2529C>T | NP_001142.2:n.*2529C>T | |
| NM_001151.4:c.*2529C>T MANE Select | NP_001142.2:n.*2529C>T |