Linked Data
ClinVar Variation Id:
225314
ClinVar RCV Id:
RCV000301571
RCV000358897
RCV002294082
RCV004547507
RCV000490470
RCV000987667
RCV001512630
dbSNP Id:
rs45484591
ExAC:
6:31918468 A / C
gnomAD v2:
6-31918468-A-C
gnomAD v3:
6-31950691-A-C
gnomAD v4:
6-31950691-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950691A>C , CM000668.2:g.31950691A>C | GRCh38 |
| NC_000006.11:g.31918468A>C , CM000668.1:g.31918468A>C | GRCh37 |
| NC_000006.10:g.32026447A>C | NCBI36 |
| NG_008191.1:g.9748A>C , LRG_136:g.9748A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2089A>C | ||
| ENST00000483004.2:c.1481A>C | ENSP00000419887.2:p.Glu494Ala | |
| ENST00000698628.1:c.1624+288A>C | ENSP00000513848.1:n.1624+288A>C | |
| ENST00000698629.1:n.1874A>C | ||
| ENST00000698630.1:n.2413A>C | ||
| ENST00000698631.1:n.2414A>C | ||
| ENST00000698632.1:n.3208A>C | ||
| ENST00000698633.1:n.3098A>C | ||
| ENST00000698636.1:n.1919A>C | ||
| ENST00000425368.7:c.1697A>C MANE Select | ENSP00000416561.2:p.Glu566Ala | |
| ENST00000425368.6:c.1697A>C | ENSP00000416561.2:p.Glu566Ala | |
| ENST00000456570.5:c.3203A>C | ENSP00000410815.1:p.Glu1068Ala | |
| ENST00000467360.1:n.823A>C | ||
| ENST00000477310.1:c.2750A>C | ENSP00000418996.1:p.Glu917Ala | |
| ENST00000483004.1:c.319A>C | ||
| NM_001710.5:c.1697A>C , LRG_136t1:c.1697A>C | NP_001701.2:p.Glu566Ala | |
| NM_001710.6:c.1697A>C MANE Select | NP_001701.2:p.Glu566Ala |