Linked Data
ClinVar Variation Id:
3666
ClinVar RCV Id:
RCV000003851
dbSNP Id:
rs28942087
ExAC:
16:67976316 A / G
gnomAD v2:
16-67976316-A-G
gnomAD v4:
16-67942413-A-G
PubMed:
PMID:8432868
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942413A>G , CM000678.2:g.67942413A>G | GRCh38 |
| NC_000016.9:g.67976316A>G , CM000678.1:g.67976316A>G | GRCh37 |
| NC_000016.8:g.66533817A>G | NCBI36 |
| NG_009778.1:g.6700T>C | |
| NG_033098.1:g.31282T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.698T>C MANE Select | ENSP00000264005.5:p.Leu233Pro | |
| ENST00000264005.9:c.698T>C | ENSP00000264005.5:p.Leu233Pro | |
| ENST00000570369.5:c.155+448T>C | ||
| ENST00000570396.1:c.46T>C | ENSP00000459291.1:p.Leu16= | |
| ENST00000570980.1:c.482T>C | ENSP00000464651.1:p.Leu161Pro | |
| ENST00000573538.5:c.341T>C | ENSP00000463220.1:p.Leu114Pro | |
| ENST00000573846.1:n.312T>C | ||
| ENST00000575277.1:n.559T>C | ||
| ENST00000575467.5:c.*393T>C | ENSP00000460653.1:n.*393T>C | |
| ENST00000576450.1:c.165T>C | ||
| NM_000229.1:c.698T>C | NP_000220.1:p.Leu233Pro | |
| NM_000229.2:c.698T>C MANE Select | NP_000220.1:p.Leu233Pro |