Linked Data
ClinVar Variation Id:
3019341
ClinVar RCV Id:
RCV003871972
dbSNP Id:
rs372239376
ExAC:
16:30764865 C / A
gnomAD v2:
16-30764865-C-A
gnomAD v4:
16-30753544-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30753544C>A , CM000678.2:g.30753544C>A | GRCh38 |
| NC_000016.9:g.30764865C>A , CM000678.1:g.30764865C>A | GRCh37 |
| NC_000016.8:g.30672366C>A | NCBI36 |
| NG_016616.1:g.10246C>A | |
| NG_016616.2:g.10246C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.543C>A MANE Select | ENSP00000455607.1:p.Gly181= | |
| ENST00000328273.11:c.543C>A | ENSP00000329968.7:p.Gly181= | |
| ENST00000424889.7:c.543C>A | ENSP00000388571.3:p.Gly181= | |
| ENST00000561712.1:c.217C>A | ||
| ENST00000563588.5:c.543C>A | ENSP00000455607.1:p.Gly181= | |
| ENST00000563607.1:c.*215C>A | ENSP00000454641.1:n.*215C>A | |
| ENST00000563913.5:n.876C>A | ||
| ENST00000564838.5:n.917C>A | ||
| ENST00000565897.5:c.543C>A | ENSP00000457359.1:p.Gly181= | |
| ENST00000565924.5:c.543C>A | ENSP00000455091.1:p.Gly181= | |
| ENST00000569684.1:n.955C>A | ||
| NM_000294.2:c.543C>A | NP_000285.1:p.Gly181= | |
| NM_001172432.1:c.543C>A | NP_001165903.1:p.Gly181= | |
| NM_000294.3:c.543C>A MANE Select | NP_000285.1:p.Gly181= | |
| NM_001172432.2:c.543C>A | NP_001165903.1:p.Gly181= |