Linked Data
ClinVar Variation Id:
294211
dbSNP Id:
rs61745374
ExAC:
1:186057347 A / T
gnomAD v2:
1-186057347-A-T
gnomAD v3:
1-186088215-A-T
gnomAD v4:
1-186088215-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186088215A>T , CM000663.2:g.186088215A>T | GRCh38 |
| NC_000001.10:g.186057347A>T , CM000663.1:g.186057347A>T | GRCh37 |
| NC_000001.9:g.184323970A>T | NCBI36 |
| NG_011841.1:g.358665A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.9516A>T MANE Select | ENSP00000271588.4:p.Thr3172= | |
| ENST00000271588.8:c.9516A>T | ENSP00000271588.4:p.Thr3172= | |
| NM_031935.2:c.9516A>T | NP_114141.2:p.Thr3172= | |
| XM_011510037.1:c.9231A>T | XP_011508339.1:p.Thr3077= | |
| XM_011510038.1:c.9516A>T | XP_011508340.1:p.Thr3172= | |
| XM_011510039.1:c.9516A>T | XP_011508341.1:p.Thr3172= | |
| XM_011510040.1:c.9516A>T | XP_011508342.1:p.Thr3172= | |
| XM_011510041.1:c.*35A>T | XP_011508343.1:n.*35A>T | |
| XM_011510038.3:c.9516A>T | XP_011508340.1:p.Thr3172= | |
| XM_011510041.3:c.*35A>T | XP_011508343.1:n.*35A>T | |
| XM_017002437.1:c.7539A>T | XP_016857926.1:p.Thr2513= | |
| XM_024450118.1:c.9516A>T | XP_024305886.1:p.Thr3172= | |
| NM_031935.3:c.9516A>T MANE Select | NP_114141.2:p.Thr3172= |