Linked Data
ClinVar Variation Id:
2291516
ClinVar RCV Id:
RCV002864528
dbSNP Id:
rs1408308764
gnomAD v2:
6-132129330-C-T
gnomAD v4:
6-131808190-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131808190C>T , CM000668.2:g.131808190C>T | GRCh38 |
| NC_000006.11:g.132129330C>T , CM000668.1:g.132129330C>T | GRCh37 |
| NC_000006.10:g.132171023C>T | NCBI36 |
| NG_008206.1:g.5175C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.155C>T MANE Select | ENSP00000498074.1:p.Pro52Leu | |
| ENST00000650507.1:c.68C>T | ENSP00000497375.1:p.Pro23Leu | |
| ENST00000360971.6:c.155C>T | ENSP00000354238.2:p.Pro52Leu | |
| ENST00000486853.1:n.175C>T | ||
| ENST00000513998.5:c.155C>T | ENSP00000422424.1:p.Pro52Leu | |
| NM_006208.2:c.155C>T | NP_006199.2:p.Pro52Leu | |
| NM_006208.3:c.155C>T MANE Select | NP_006199.2:p.Pro52Leu |