Linked Data
ClinVar Variation Id:
133286
ClinVar RCV Id:
RCV000119799
dbSNP Id:
rs587777401
gnomAD v3:
1-63654414-T-C
gnomAD v4:
1-63654414-T-C
PubMed:
PMID:24499211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63654414T>C , CM000663.2:g.63654414T>C | GRCh38 |
| NC_000001.10:g.64120085T>C , CM000663.1:g.64120085T>C | GRCh37 |
| NC_000001.9:g.63892673T>C | NCBI36 |
| NG_016966.1:g.66139T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.1547T>C MANE Select | ENSP00000360125.3:p.Leu516Pro | |
| ENST00000650546.1:c.1547T>C | ENSP00000497812.1:p.Leu516Pro | |
| ENST00000371083.4:c.1601T>C | ENSP00000360124.4:p.Leu534Pro | |
| ENST00000371084.7:c.1547T>C | ENSP00000360125.3:p.Leu516Pro | |
| ENST00000483707.1:n.581T>C | ||
| ENST00000540265.5:c.956T>C | ENSP00000443449.1:p.Leu319Pro | |
| NM_001172818.1:c.1601T>C | NP_001166289.1:p.Leu534Pro | |
| NM_001172819.1:c.956T>C | NP_001166290.1:p.Leu319Pro | |
| NM_002633.2:c.1547T>C | NP_002624.2:p.Leu516Pro | |
| NM_002633.3:c.1547T>C MANE Select | NP_002624.2:p.Leu516Pro | |
| NM_001172819.2:c.956T>C | NP_001166290.1:p.Leu319Pro |