Linked Data
ClinVar Variation Id:
781179
ClinVar RCV Id:
RCV000962383
dbSNP Id:
rs61741761
ExAC:
16:2014289 G / A
gnomAD v2:
16-2014289-G-A
gnomAD v3:
16-1964288-G-A
gnomAD v4:
16-1964288-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1964288G>A , CM000678.2:g.1964288G>A | GRCh38 |
| NC_000016.9:g.2014289G>A , CM000678.1:g.2014289G>A | GRCh37 |
| NC_000016.8:g.1954290G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343262.9:c.255C>T MANE Select | ENSP00000341885.4:p.Ser85= | |
| ENST00000343262.8:c.255C>T | ENSP00000341885.4:p.Ser85= | |
| ENST00000526522.5:c.255C>T | ENSP00000436865.1:p.Ser85= | |
| ENST00000526908.1:n.251C>T | ||
| ENST00000527109.5:n.260C>T | ||
| ENST00000527302.1:c.255C>T | ENSP00000433034.1:p.Ser85= | |
| ENST00000527826.1:n.518C>T | ||
| ENST00000527871.5:n.261C>T | ||
| ENST00000529806.5:c.177+161C>T | ENSP00000433170.1:n.177+161C>T | |
| ENST00000530225.5:c.255C>T | ENSP00000436356.1:p.Ser85= | |
| ENST00000531065.5:n.261C>T | ||
| ENST00000532746.5:c.80C>T | ||
| ENST00000533161.5:n.443C>T | ||
| ENST00000533186.5:c.69C>T | ENSP00000436227.1:p.Ser23= | |
| ENST00000533872.5:n.211C>T | ||
| ENST00000534461.5:n.78C>T | ||
| ENST00000563194.1:c.75C>T | ENSP00000454837.1:p.Ser25= | |
| NM_002952.3:c.255C>T | NP_002943.2:p.Ser85= | |
| NM_002952.4:c.255C>T MANE Select | NP_002943.2:p.Ser85= |