Linked Data
ClinVar Variation Id:
597417
dbSNP Id:
rs570123407
ExAC:
8:133187766 C / T
gnomAD v2:
8-133187766-C-T
gnomAD v3:
8-132175519-C-T
gnomAD v4:
8-132175519-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132175519C>T , CM000670.2:g.132175519C>T | GRCh38 |
| NC_000008.10:g.133187766C>T , CM000670.1:g.133187766C>T | GRCh37 |
| NC_000008.9:g.133256948C>T | NCBI36 |
| NG_008854.2:g.310239G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388996.10:c.867G>A MANE Select | ENSP00000373648.3:p.Val289= | |
| ENST00000521134.6:c.507G>A | ENSP00000429799.1:p.Val169= | |
| ENST00000638588.1:c.540G>A | ENSP00000491940.1:p.Val180= | |
| ENST00000639358.1:c.517G>A | ||
| ENST00000639496.1:c.540G>A | ENSP00000491165.1:p.Val180= | |
| ENST00000388996.8:c.867G>A | ENSP00000373648.3:p.Val289= | |
| ENST00000519445.5:c.867G>A | ENSP00000428790.1:p.Val289= | |
| ENST00000519589.1:n.645G>A | ||
| ENST00000521134.5:c.507G>A | ENSP00000429799.1:p.Val169= | |
| ENST00000621976.1:c.504G>A | ENSP00000482510.1:p.Val168= | |
| NM_001204824.1:c.507G>A | NP_001191753.1:p.Val169= | |
| NM_004519.3:c.867G>A | NP_004510.1:p.Val289= | |
| XM_005250914.2:c.-290G>A | XP_005250971.1:n.-290G>A | |
| XM_006716555.2:c.159G>A | XP_006716618.1:p.Val53= | |
| XM_011517026.1:c.507G>A | XP_011515328.1:p.Val169= | |
| XM_005250914.3:c.-290G>A | XP_005250971.1:n.-290G>A | |
| XM_006716555.3:c.159G>A | XP_006716618.1:p.Val53= | |
| XM_011517026.2:c.507G>A | XP_011515328.1:p.Val169= | |
| XM_017013400.1:c.645G>A | XP_016868889.1:p.Val215= | |
| NM_004519.4:c.867G>A MANE Select | NP_004510.1:p.Val289= | |
| NM_001204824.2:c.507G>A | NP_001191753.1:p.Val169= |