Linked Data
ClinVar Variation Id:
1135796
ClinVar RCV Id:
RCV001471242
dbSNP Id:
rs2108410693
MyVariant Identifiers:
chr3:g.178937388A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179219600A>C , CM000665.2:g.179219600A>C | GRCh38 |
| NC_000003.11:g.178937388A>C , CM000665.1:g.178937388A>C | GRCh37 |
| NC_000003.10:g.180420082A>C | NCBI36 |
| NG_012113.2:g.76078A>C , LRG_310:g.76078A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1776A>C MANE Select | ENSP00000263967.3:p.Pro592= | |
| ENST00000462255.2:n.238A>C | ||
| ENST00000643187.1:c.1776A>C | ENSP00000493507.1:p.Pro592= | |
| ENST00000674534.1:n.2684A>C | ||
| ENST00000674622.1:c.197A>C | ENSP00000502417.1:n.197A>C | |
| ENST00000675467.1:n.4583A>C | ||
| ENST00000675786.1:c.*343A>C | ENSP00000502323.1:n.*343A>C | |
| ENST00000263967.3:c.1776A>C | ENSP00000263967.3:p.Pro592= | |
| ENST00000462255.1:n.50A>C | ||
| NM_006218.2:c.1776A>C , LRG_310t1:c.1776A>C | NP_006209.2:p.Pro592= | |
| XM_006713658.2:c.1776A>C | XP_006713721.1:p.Pro592= | |
| XM_011512894.1:c.1776A>C | XP_011511196.1:p.Pro592= | |
| NM_006218.3:c.1776A>C | NP_006209.2:p.Pro592= | |
| XM_006713658.4:c.1776A>C | XP_006713721.1:p.Pro592= | |
| XM_011512894.2:c.1776A>C | XP_011511196.1:p.Pro592= | |
| NM_006218.4:c.1776A>C MANE Select | NP_006209.2:p.Pro592= |