Linked Data
ClinVar Variation Id:
15865
ClinVar RCV Id:
RCV001276182
dbSNP Id:
rs35993655
gnomAD v2:
16-227370-T-C
gnomAD v3:
16-177371-T-C
gnomAD v4:
16-177371-T-C
PubMed:
PMID:7786798
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177371T>C , CM000678.2:g.177371T>C | GRCh38 |
| NC_000016.9:g.227370T>C , CM000678.1:g.227370T>C | GRCh37 |
| NC_000016.8:g.167370T>C | NCBI36 |
| NG_000006.1:g.38234T>C | |
| NG_059186.1:g.5721T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.389T>C MANE Select | ENSP00000322421.5:p.Leu130Pro | |
| ENST00000397797.1:c.293T>C | ENSP00000380899.1:p.Leu98Pro | |
| ENST00000472694.1:n.525T>C | ||
| NM_000558.4:c.389T>C | NP_000549.1:p.Leu130Pro | |
| NM_000558.5:c.389T>C MANE Select | NP_000549.1:p.Leu130Pro |