Linked Data
ClinVar Variation Id:
768697
ClinVar RCV Id:
RCV000947615
dbSNP Id:
rs116439074
ExAC:
15:42058900 A / G
gnomAD v2:
15-42058900-A-G
gnomAD v3:
15-41766702-A-G
gnomAD v4:
15-41766702-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41766702A>G , CM000677.2:g.41766702A>G | GRCh38 |
| NC_000015.9:g.42058900A>G , CM000677.1:g.42058900A>G | GRCh37 |
| NC_000015.8:g.39846192A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703841.1:c.8767A>G MANE Select | ENSP00000515495.1:p.Thr2923Ala | |
| ENST00000219905.13:c.8620A>G | ENSP00000219905.7:p.Thr2874Ala | |
| ENST00000566586.6:c.7993A>G | ENSP00000456141.1:p.Thr2665Ala | |
| ENST00000568255.2:n.2254A>G | ||
| ENST00000682598.1:n.1411A>G | ||
| ENST00000219905.11:c.8620A>G | ENSP00000219905.7:p.Thr2874Ala | |
| ENST00000545763.5:c.7993A>G | ENSP00000442467.1:p.Thr2665Ala | |
| ENST00000566586.5:c.7993A>G | ENSP00000456141.1:p.Thr2665Ala | |
| ENST00000570161.5:c.8620A>G | ENSP00000457035.1:p.Thr2874Ala | |
| NM_001080541.2:c.7993A>G | NP_001074010.2:p.Thr2665Ala | |
| NM_001164273.1:c.8620A>G | NP_001157745.1:p.Thr2874Ala | |
| XM_005254243.1:c.8770A>G | XP_005254300.1:p.Thr2924Ala | |
| XM_005254244.2:c.8770A>G | XP_005254301.1:p.Thr2924Ala | |
| XM_005254245.3:c.8770A>G | XP_005254302.1:p.Thr2924Ala | |
| XM_005254246.1:c.8770A>G | XP_005254303.1:p.Thr2924Ala | |
| XM_005254247.1:c.8770A>G | XP_005254304.1:p.Thr2924Ala | |
| XM_005254248.1:c.8767A>G | XP_005254305.1:p.Thr2923Ala | |
| XM_005254249.1:c.8623A>G | XP_005254306.1:p.Thr2875Ala | |
| XM_005254252.1:c.8293A>G | XP_005254309.1:p.Thr2765Ala | |
| XM_005254253.1:c.8143A>G | XP_005254310.1:p.Thr2715Ala | |
| XM_005254254.2:c.4306A>G | XP_005254311.1:p.Thr1436Ala | |
| XM_006720443.2:c.8770A>G | XP_006720506.1:p.Thr2924Ala | |
| XM_006720444.2:c.7714A>G | XP_006720507.1:p.Thr2572Ala | |
| XM_006720445.2:c.7399A>G | XP_006720508.1:p.Thr2467Ala | |
| XM_011521397.1:c.8440A>G | XP_011519699.1:p.Thr2814Ala | |
| XM_011521398.1:c.8437A>G | XP_011519700.1:p.Thr2813Ala | |
| XM_011521399.1:c.4117A>G | XP_011519701.1:p.Thr1373Ala | |
| XM_011521400.1:c.4117A>G | XP_011519702.1:p.Thr1373Ala | |
| XM_005254243.3:c.8770A>G | XP_005254300.1:p.Thr2924Ala | |
| XM_005254244.4:c.8770A>G | XP_005254301.1:p.Thr2924Ala | |
| XM_005254245.5:c.8770A>G | XP_005254302.1:p.Thr2924Ala | |
| XM_005254246.3:c.8770A>G | XP_005254303.1:p.Thr2924Ala | |
| XM_005254247.3:c.8770A>G | XP_005254304.1:p.Thr2924Ala | |
| XM_005254248.3:c.8767A>G | XP_005254305.1:p.Thr2923Ala | |
| XM_005254249.3:c.8623A>G | XP_005254306.1:p.Thr2875Ala | |
| XM_005254252.3:c.8293A>G | XP_005254309.1:p.Thr2765Ala | |
| XM_005254253.3:c.8143A>G | XP_005254310.1:p.Thr2715Ala | |
| XM_005254254.4:c.4306A>G | XP_005254311.1:p.Thr1436Ala | |
| XM_006720443.4:c.8770A>G | XP_006720506.1:p.Thr2924Ala | |
| XM_006720445.4:c.7399A>G | XP_006720508.1:p.Thr2467Ala | |
| XM_011521397.3:c.8440A>G | XP_011519699.1:p.Thr2814Ala | |
| XM_011521398.3:c.8437A>G | XP_011519700.1:p.Thr2813Ala | |
| XM_011521399.3:c.4117A>G | XP_011519701.1:p.Thr1373Ala | |
| XM_011521400.3:c.4117A>G | XP_011519702.1:p.Thr1373Ala | |
| XM_017022028.2:c.7399A>G | XP_016877517.1:p.Thr2467Ala | |
| XM_017022029.2:c.7399A>G | XP_016877518.1:p.Thr2467Ala | |
| XM_017022030.2:c.6046A>G | XP_016877519.1:p.Thr2016Ala | |
| XM_017022031.2:c.4114A>G | XP_016877520.1:p.Thr1372Ala | |
| XM_017022032.2:c.4114A>G | XP_016877521.1:p.Thr1372Ala | |
| NM_001080541.3:c.7993A>G | NP_001074010.2:p.Thr2665Ala | |
| NM_001164273.2:c.8620A>G | NP_001157745.1:p.Thr2874Ala | |
| NM_001400225.1:c.8767A>G MANE Select | NP_001387154.1:p.Thr2923Ala | |
| NM_001400242.1:c.5716A>G | NP_001387171.1:p.Thr1906Ala |