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:
40641
ClinVar RCV Id:
RCV000038509
RCV000159147
RCV001143269
RCV001143267
RCV001703446
RCV001813278
RCV002453283
RCV003904889
dbSNP Id:
rs150565592
ExAC:
2:39294873 T / C
gnomAD v2:
2-39294873-T-C
gnomAD v3:
2-39067732-T-C
gnomAD v4:
2-39067732-T-C
PubMed:
PMID:21387466
ERepo:
CA136074/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39067732T>C , CM000664.2:g.39067732T>C | GRCh38 |
| NC_000002.11:g.39294873T>C , CM000664.1:g.39294873T>C | GRCh37 |
| NC_000002.10:g.39148377T>C | NCBI36 |
| NG_007530.1:g.57732A>G , LRG_754:g.57732A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.136A>G | ||
| ENST00000685782.1:n.947A>G | ||
| ENST00000689668.1:n.116A>G | ||
| ENST00000690679.1:c.209A>G | ||
| ENST00000690876.1:c.109A>G | ENSP00000508955.1:p.Thr37Ala | |
| ENST00000691229.1:c.109A>G | ENSP00000510437.1:p.Thr37Ala | |
| ENST00000692089.1:c.109A>G | ENSP00000508626.1:p.Thr37Ala | |
| ENST00000402219.8:c.109A>G MANE Select | ENSP00000384675.2:p.Thr37Ala | |
| ENST00000395038.6:c.109A>G | ENSP00000378479.2:p.Thr37Ala | |
| ENST00000402219.6:c.109A>G | ENSP00000384675.2:p.Thr37Ala | |
| ENST00000426016.5:c.109A>G | ENSP00000387784.1:p.Thr37Ala | |
| ENST00000451331.1:c.-63A>G | ENSP00000393899.1:n.-63A>G | |
| NM_005633.3:c.109A>G , LRG_754t1:c.109A>G | NP_005624.2:p.Thr37Ala | |
| XM_005264515.3:c.109A>G | XP_005264572.1:p.Thr37Ala | |
| XM_011533060.1:c.202A>G | XP_011531362.1:p.Thr68Ala | |
| XM_011533061.1:c.202A>G | XP_011531363.1:p.Thr68Ala | |
| XM_011533062.1:c.88A>G | XP_011531364.1:p.Thr30Ala | |
| XM_011533063.1:c.85A>G | XP_011531365.1:p.Thr29Ala | |
| XM_011533064.1:c.-63A>G | XP_011531366.1:n.-63A>G | |
| XM_011533065.1:c.202A>G | XP_011531367.1:p.Thr68Ala | |
| XM_005264515.4:c.109A>G | XP_005264572.1:p.Thr37Ala | |
| XM_011533062.2:c.88A>G | XP_011531364.1:p.Thr30Ala | |
| XM_011533064.2:c.-63A>G | XP_011531366.1:n.-63A>G | |
| NM_001382394.1:c.88A>G | NP_001369323.1:p.Thr30Ala | |
| NM_001382395.1:c.109A>G | NP_001369324.1:p.Thr37Ala | |
| NM_005633.4:c.109A>G MANE Select | NP_005624.2:p.Thr37Ala |