Linked Data
ClinVar Variation Id:
283585
dbSNP Id:
rs35759430
ExAC:
2:27535587 G / A
gnomAD v2:
2-27535587-G-A
gnomAD v3:
2-27312720-G-A
gnomAD v4:
2-27312720-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27312720G>A , CM000664.2:g.27312720G>A | GRCh38 |
| NC_000002.11:g.27535587G>A , CM000664.1:g.27535587G>A | GRCh37 |
| NC_000002.10:g.27389091G>A | NCBI36 |
| NG_008075.1:g.14845C>T | |
| NG_033055.1:g.544C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.239C>T MANE Select | ENSP00000369383.1:p.Thr80Ile | |
| ENST00000233545.6:c.239C>T | ENSP00000233545.2:p.Thr80Ile | |
| ENST00000357186.10:c.71C>T | ENSP00000349713.6:p.Thr24Ile | |
| ENST00000380044.5:c.239C>T | ENSP00000369383.1:p.Thr80Ile | |
| ENST00000402310.5:c.239C>T | ENSP00000383955.1:p.Thr80Ile | |
| ENST00000402722.5:c.204C>T | ENSP00000386000.1:p.His68= | |
| ENST00000403262.6:c.239C>T | ENSP00000385671.1:p.Thr80Ile | |
| ENST00000405076.5:c.186+274C>T | ENSP00000385175.1:n.186+274C>T | |
| ENST00000405983.5:c.284C>T | ENSP00000384586.1:p.Thr95Ile | |
| ENST00000415514.5:c.*40C>T | ENSP00000388043.1:n.*40C>T | |
| ENST00000426513.6:c.204C>T | ENSP00000403824.2:p.His68= | |
| ENST00000428910.5:c.161C>T | ENSP00000405235.1:p.Thr54Ile | |
| ENST00000430991.5:c.169C>T | ||
| ENST00000475085.1:n.267C>T | ||
| ENST00000616446.1:n.216C>T | ||
| ENST00000616707.1:n.668C>T | ||
| ENST00000617583.4:n.265C>T | ||
| ENST00000621183.4:n.295C>T | ||
| ENST00000621470.4:n.255C>T | ||
| ENST00000622003.4:n.412C>T | ||
| NM_002437.4:c.239C>T | NP_002428.1:p.Thr80Ile | |
| XM_005264326.2:c.239C>T | XP_005264383.1:p.Thr80Ile | |
| XM_005264327.2:c.80C>T | XP_005264384.1:p.Thr27Ile | |
| XM_006712021.2:c.191C>T | XP_006712084.1:p.Thr64Ile | |
| XM_005264326.4:c.239C>T | XP_005264383.1:p.Thr80Ile | |
| XM_006712021.3:c.191C>T | XP_006712084.1:p.Thr64Ile | |
| XM_017004150.1:c.221C>T | XP_016859639.1:p.Thr74Ile | |
| XM_017004151.1:c.191C>T | XP_016859640.1:p.Thr64Ile | |
| XM_017004152.1:c.80C>T | XP_016859641.1:p.Thr27Ile | |
| XM_024452913.1:c.191C>T | XP_024308681.1:p.Thr64Ile | |
| NM_002437.5:c.239C>T MANE Select | NP_002428.1:p.Thr80Ile |