Linked Data
ClinVar Variation Id:
385430
dbSNP Id:
rs149994413
ExAC:
8:38095663 G / A
gnomAD v2:
8-38095663-G-A
gnomAD v3:
8-38238145-G-A
gnomAD v4:
8-38238145-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38238145G>A , CM000670.2:g.38238145G>A | GRCh38 |
| NC_000008.10:g.38095663G>A , CM000670.1:g.38095663G>A | GRCh37 |
| NC_000008.9:g.38214820G>A | NCBI36 |
| NG_033875.1:g.11655G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397166.7:c.558G>A MANE Select | ENSP00000380352.2:p.Thr186= | |
| ENST00000397166.6:c.558G>A | ENSP00000380352.2:p.Thr186= | |
| ENST00000519857.5:n.755G>A | ||
| ENST00000520272.6:c.558G>A | ENSP00000429932.2:p.Thr186= | |
| ENST00000526237.5:c.*115G>A | ENSP00000436994.1:n.*115G>A | |
| ENST00000527415.5:c.411+518G>A | ENSP00000432024.1:n.411+518G>A | |
| ENST00000532222.5:c.558G>A | ENSP00000433578.1:p.Thr186= | |
| NM_001164232.1:c.558G>A | NP_001157704.1:p.Thr186= | |
| NM_001164234.1:c.558G>A | NP_001157706.1:p.Thr186= | |
| NM_015214.2:c.558G>A | NP_056029.2:p.Thr186= | |
| XM_005273454.1:c.558G>A | XP_005273511.1:p.Thr186= | |
| XM_005273455.2:c.558G>A | XP_005273512.1:p.Thr186= | |
| XM_005273456.2:c.558G>A | XP_005273513.1:p.Thr186= | |
| XM_011544455.1:c.558G>A | XP_011542757.1:p.Thr186= | |
| XM_011544456.1:c.558G>A | XP_011542758.1:p.Thr186= | |
| XR_247123.1:n.1083G>A | ||
| XR_949383.1:n.1083G>A | ||
| XR_949384.1:n.1083G>A | ||
| XR_949385.1:n.1083G>A | ||
| XR_949386.1:n.1083G>A | ||
| XR_949387.1:n.1083G>A | ||
| NM_001362911.1:c.558G>A | NP_001349840.1:p.Thr186= | |
| NM_001362912.1:c.558G>A | NP_001349841.1:p.Thr186= | |
| NM_001362913.1:c.558G>A | NP_001349842.1:p.Thr186= | |
| NM_001362914.1:c.558G>A | NP_001349843.1:p.Thr186= | |
| NR_156416.1:n.935G>A | ||
| NR_156417.1:n.935G>A | ||
| XM_011544456.2:c.558G>A | XP_011542758.1:p.Thr186= | |
| XM_017013255.2:c.-428G>A | XP_016868744.1:n.-428G>A | |
| XR_001745504.2:n.841G>A | ||
| XR_001745506.2:n.841G>A | ||
| NM_001362911.2:c.558G>A | NP_001349840.1:p.Thr186= | |
| NM_001362912.2:c.558G>A | NP_001349841.1:p.Thr186= | |
| NM_015214.3:c.558G>A MANE Select | NP_056029.2:p.Thr186= | |
| NR_156417.2:n.841G>A | ||
| NM_001164232.2:c.558G>A | NP_001157704.1:p.Thr186= | |
| NM_001164234.2:c.558G>A | NP_001157706.1:p.Thr186= | |
| NM_001362913.2:c.558G>A | NP_001349842.1:p.Thr186= | |
| NM_001362914.2:c.558G>A | NP_001349843.1:p.Thr186= | |
| NR_156416.2:n.841G>A |