Linked Data
ClinVar Variation Id:
764247
ClinVar RCV Id:
RCV000942572
dbSNP Id:
rs779463513
ExAC:
7:87150097 T / C
gnomAD v2:
7-87150097-T-C
gnomAD v3:
7-87520781-T-C
gnomAD v4:
7-87520781-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87520781T>C , CM000669.2:g.87520781T>C | GRCh38 |
| NC_000007.13:g.87150097T>C , CM000669.1:g.87150097T>C | GRCh37 |
| NC_000007.12:g.86988033T>C | NCBI36 |
| NG_011513.1:g.197468A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2781A>G | ENSP00000265724.3:p.Pro927= | |
| ENST00000622132.5:c.2781A>G MANE Select | ENSP00000478255.1:p.Pro927= | |
| ENST00000265724.7:c.2781A>G | ENSP00000265724.3:p.Pro927= | |
| ENST00000483831.1:n.339A>G | ||
| ENST00000488737.6:n.423A>G | ||
| ENST00000496821.5:n.409A>G | ||
| ENST00000543898.5:c.2589A>G | ENSP00000444095.1:p.Pro863= | |
| ENST00000622132.4:c.2781A>G | ENSP00000478255.1:p.Pro927= | |
| NM_000927.4:c.2781A>G | NP_000918.2:p.Pro927= | |
| NM_001348944.1:c.2781A>G | NP_001335873.1:p.Pro927= | |
| NM_001348945.1:c.2991A>G | NP_001335874.1:p.Pro997= | |
| NM_001348946.1:c.2781A>G | NP_001335875.1:p.Pro927= | |
| NM_001348946.2:c.2781A>G MANE Select | NP_001335875.1:p.Pro927= | |
| NM_000927.5:c.2781A>G | NP_000918.2:p.Pro927= | |
| NM_001348944.2:c.2781A>G | NP_001335873.1:p.Pro927= | |
| NM_001348945.2:c.2991A>G | NP_001335874.1:p.Pro997= |