Linked Data
ClinVar Variation Id:
214664
dbSNP Id:
rs863224074
gnomAD v3:
2-27312499-G-A
gnomAD v4:
2-27312499-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27312499G>A , CM000664.2:g.27312499G>A | GRCh38 |
| NC_000002.11:g.27535366G>A , CM000664.1:g.27535366G>A | GRCh37 |
| NC_000002.10:g.27388870G>A | NCBI36 |
| NG_008075.1:g.15066C>T | |
| NG_033055.1:g.765C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.370C>T MANE Select | ENSP00000369383.1:p.Gln124Ter | |
| ENST00000233545.6:c.370C>T | ENSP00000233545.2:p.Gln124Ter | |
| ENST00000357186.10:c.202C>T | ENSP00000349713.6:p.Gln68Ter | |
| ENST00000380044.5:c.370C>T | ENSP00000369383.1:p.Gln124Ter | |
| ENST00000402310.5:c.370C>T | ENSP00000383955.1:p.Gln124Ter | |
| ENST00000402722.5:c.*35C>T | ENSP00000386000.1:n.*35C>T | |
| ENST00000403262.6:c.370C>T | ENSP00000385671.1:p.Gln124Ter | |
| ENST00000405076.5:c.187-253C>T | ENSP00000385175.1:n.187-253C>T | |
| ENST00000405983.5:c.415C>T | ENSP00000384586.1:p.Gln139Ter | |
| ENST00000415514.5:c.*171C>T | ENSP00000388043.1:n.*171C>T | |
| ENST00000426513.6:c.*35C>T | ENSP00000403824.2:n.*35C>T | |
| ENST00000428910.5:c.292C>T | ENSP00000405235.1:p.Gln98Ter | |
| ENST00000430991.5:c.209+181C>T | ||
| ENST00000475085.1:n.398C>T | ||
| ENST00000616446.1:n.347C>T | ||
| ENST00000616707.1:n.889C>T | ||
| ENST00000617583.4:n.396C>T | ||
| ENST00000621183.4:n.426C>T | ||
| ENST00000621470.4:n.386C>T | ||
| ENST00000622003.4:n.543C>T | ||
| NM_002437.4:c.370C>T | NP_002428.1:p.Gln124Ter | |
| XM_005264326.2:c.370C>T | XP_005264383.1:p.Gln124Ter | |
| XM_005264327.2:c.211C>T | XP_005264384.1:p.Gln71Ter | |
| XM_006712021.2:c.322C>T | XP_006712084.1:p.Gln108Ter | |
| XM_005264326.4:c.370C>T | XP_005264383.1:p.Gln124Ter | |
| XM_006712021.3:c.322C>T | XP_006712084.1:p.Gln108Ter | |
| XM_017004150.1:c.352C>T | XP_016859639.1:p.Gln118Ter | |
| XM_017004151.1:c.322C>T | XP_016859640.1:p.Gln108Ter | |
| XM_017004152.1:c.211C>T | XP_016859641.1:p.Gln71Ter | |
| XM_024452913.1:c.322C>T | XP_024308681.1:p.Gln108Ter | |
| NM_002437.5:c.370C>T MANE Select | NP_002428.1:p.Gln124Ter |