Linked Data
ClinVar Variation Id:
446203
ClinVar RCV Id:
RCV000515462
dbSNP Id:
rs756204866
PubMed:
PMID:26843489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130702231G>A , CM000671.2:g.130702231G>A | GRCh38 |
| NC_000009.11:g.133577618G>A , CM000671.1:g.133577618G>A | GRCh37 |
| NC_000009.10:g.132567439G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430138.7:n.376G>A | ||
| ENST00000491115.7:c.*121G>A | ENSP00000509903.1:n.*121G>A | |
| ENST00000495699.3:c.593G>A | ENSP00000418463.3:p.Gly198Asp | |
| ENST00000546165.6:c.515G>A | ENSP00000444917.1:p.Gly172Asp | |
| ENST00000685137.1:c.*378G>A | ENSP00000510555.1:n.*378G>A | |
| ENST00000685277.1:c.438G>A | ENSP00000508897.1:n.438G>A | |
| ENST00000686102.1:n.1085G>A | ||
| ENST00000687051.1:c.515G>A | ENSP00000509862.1:p.Gly172Asp | |
| ENST00000687420.1:c.*1576G>A | ENSP00000510661.1:n.*1576G>A | |
| ENST00000688258.1:c.*1092G>A | ENSP00000509176.1:n.*1092G>A | |
| ENST00000688364.1:n.304G>A | ||
| ENST00000688967.1:c.*2110G>A | ENSP00000509217.1:n.*2110G>A | |
| ENST00000689662.1:n.2589G>A | ||
| ENST00000689890.1:c.*646G>A | ENSP00000508702.1:n.*646G>A | |
| ENST00000691104.1:n.3284G>A | ||
| ENST00000691284.1:c.593G>A | ENSP00000508620.1:p.Gly198Asp | |
| ENST00000691425.1:n.4886G>A | ||
| ENST00000691926.1:c.*1092G>A | ENSP00000510677.1:n.*1092G>A | |
| ENST00000692794.1:c.*378G>A | ENSP00000510147.1:n.*378G>A | |
| ENST00000693011.1:c.*1345G>A | ENSP00000508836.1:n.*1345G>A | |
| ENST00000693435.1:c.*912G>A | ENSP00000509661.1:n.*912G>A | |
| ENST00000693610.1:c.*3048G>A | ENSP00000509388.1:n.*3048G>A | |
| ENST00000372358.10:c.593G>A MANE Select | ENSP00000361433.5:p.Gly198Asp | |
| ENST00000372350.7:c.539G>A | ENSP00000361425.2:p.Gly180Asp | |
| ENST00000372351.7:c.503G>A | ENSP00000361426.3:p.Gly168Asp | |
| ENST00000372352.7:c.569G>A | ENSP00000361427.3:p.Gly190Asp | |
| ENST00000372358.9:c.593G>A | ENSP00000361433.5:p.Gly198Asp | |
| ENST00000430138.6:n.1157G>A | ||
| ENST00000467138.1:n.1390G>A | ||
| ENST00000491115.6:n.450G>A | ||
| ENST00000495699.2:c.501G>A | ||
| ENST00000546165.5:c.515G>A | ENSP00000444917.1:p.Gly172Asp | |
| NM_001282708.1:c.515G>A | NP_001269637.1:p.Gly172Asp | |
| NM_001282709.1:c.503G>A | NP_001269638.1:p.Gly168Asp | |
| NM_014285.6:c.593G>A | NP_055100.2:p.Gly198Asp | |
| NR_104230.1:n.1131G>A | ||
| XM_005272176.2:c.257G>A | XP_005272233.1:p.Gly86Asp | |
| XM_006717023.2:c.203G>A | XP_006717086.1:p.Gly68Asp | |
| XM_017014558.1:c.257G>A | XP_016870047.1:p.Gly86Asp | |
| XR_001746262.1:n.1572G>A | ||
| NM_014285.7:c.593G>A MANE Select | NP_055100.2:p.Gly198Asp |