SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
220007
dbSNP Id:
rs864622341
gnomAD v4:
10-87952146-A-G
ERepo:
CA349032/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952146A>G , CM000672.2:g.87952146A>G | GRCh38 |
| NC_000010.10:g.89711903A>G , CM000672.1:g.89711903A>G | GRCh37 |
| NC_000010.9:g.89701883A>G | NCBI36 |
| NG_007466.2:g.93708A>G , LRG_311:g.93708A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.521A>G | ENSP00000514759.2:p.Tyr174Cys | |
| ENST00000710265.1:c.521A>G | ENSP00000518161.1:p.Tyr174Cys | |
| ENST00000472832.3:c.521A>G | ENSP00000483066.2:p.Tyr174Cys | |
| ENST00000688158.2:n.1256A>G | ||
| ENST00000688922.2:c.*351A>G | ENSP00000508742.2:n.*351A>G | |
| ENST00000700021.1:c.476A>G | ENSP00000514757.1:p.Tyr159Cys | |
| ENST00000700022.1:c.493-5707A>G | ENSP00000514758.1:n.493-5707A>G | |
| ENST00000700023.1:n.1679A>G | ||
| ENST00000700024.1:n.1913A>G | ||
| ENST00000700025.1:n.1290A>G | ||
| ENST00000700029.1:c.355A>G | ||
| ENST00000706954.1:c.521A>G | ENSP00000516674.1:p.Tyr174Cys | |
| ENST00000706955.1:c.*556A>G | ENSP00000516675.1:n.*556A>G | |
| ENST00000686459.1:c.*107A>G | ENSP00000508909.1:n.*107A>G | |
| ENST00000688158.1:c.*632A>G | ENSP00000509254.1:n.*632A>G | |
| ENST00000688308.1:c.521A>G | ENSP00000508752.1:p.Tyr174Cys | |
| ENST00000688922.1:c.442A>G | ||
| ENST00000693560.1:c.1040A>G | ENSP00000509861.1:p.Tyr347Cys | |
| ENST00000371953.8:c.521A>G MANE Select | ENSP00000361021.3:p.Tyr174Cys | |
| ENST00000371953.7:c.521A>G | ENSP00000361021.3:p.Tyr174Cys | |
| NM_000314.5:c.521A>G | NP_000305.3:p.Tyr174Cys | |
| NM_000314.6:c.521A>G | NP_000305.3:p.Tyr174Cys | |
| NM_001304717.2:c.1040A>G | NP_001291646.2:p.Tyr347Cys | |
| NM_001304718.1:c.-71A>G | NP_001291647.1:n.-71A>G | |
| XM_006717926.2:c.476A>G | XP_006717989.1:p.Tyr159Cys | |
| XM_011539981.1:c.521A>G | XP_011538283.1:p.Tyr174Cys | |
| XM_011539982.1:c.425A>G | XP_011538284.1:p.Tyr142Cys | |
| XR_945789.1:n.1392A>G | ||
| XR_945790.1:n.1509A>G | ||
| XR_945791.1:n.1205-5707A>G | ||
| NM_000314.7:c.521A>G | NP_000305.3:p.Tyr174Cys | |
| NM_001304717.5:c.1040A>G | NP_001291646.4:p.Tyr347Cys | |
| NM_001304718.2:c.-71A>G | NP_001291647.1:n.-71A>G | |
| NM_000314.8:c.521A>G MANE Select | NP_000305.3:p.Tyr174Cys |