Linked Data
ClinVar Variation Id:
15730
dbSNP Id:
rs33931314
gnomAD v4:
16-177120-C-T
PubMed:
PMID:5436649
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177120C>T , CM000678.2:g.177120C>T | GRCh38 |
| NC_000016.9:g.227119C>T , CM000678.1:g.227119C>T | GRCh37 |
| NC_000016.8:g.167119C>T | NCBI36 |
| NG_000006.1:g.37983C>T | |
| NG_059186.1:g.5470C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.287C>T MANE Select | ENSP00000322421.5:p.Pro96Leu | |
| ENST00000397797.1:c.191C>T | ENSP00000380899.1:p.Pro64Leu | |
| ENST00000472694.1:n.423C>T | ||
| ENST00000487791.1:n.256C>T | ||
| NM_000558.4:c.287C>T | NP_000549.1:p.Pro96Leu | |
| NM_000558.5:c.287C>T MANE Select | NP_000549.1:p.Pro96Leu |