Linked Data
ClinVar Variation Id:
325658
dbSNP Id:
rs372166304
ExAC:
17:7604986 G / A
gnomAD v2:
17-7604986-G-A
gnomAD v3:
17-7701668-G-A
gnomAD v4:
17-7701668-G-A
COSMIC:
COSM4070084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7701668G>A , CM000679.2:g.7701668G>A | GRCh38 |
| NC_000017.10:g.7604986G>A , CM000679.1:g.7604986G>A | GRCh37 |
| NC_000017.9:g.7545711G>A | NCBI36 |
| NG_028245.1:g.20598G>A , LRG_375:g.20598G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698742.1:c.834G>A | ENSP00000513904.1:p.Thr278= | |
| ENST00000698743.1:c.*567G>A | ENSP00000513905.1:n.*567G>A | |
| ENST00000698744.1:c.*494G>A | ENSP00000513906.1:n.*494G>A | |
| ENST00000698745.1:c.*278G>A | ENSP00000513907.1:n.*278G>A | |
| ENST00000698746.1:c.834G>A | ENSP00000513908.1:p.Thr278= | |
| ENST00000698747.1:c.426G>A | ENSP00000513909.1:p.Thr142= | |
| ENST00000396463.7:c.834G>A MANE Select | ENSP00000379727.3:p.Thr278= | |
| ENST00000316024.9:c.834G>A | ENSP00000324203.5:p.Thr278= | |
| ENST00000396463.6:c.834G>A | ENSP00000379727.2:p.Thr278= | |
| ENST00000431639.6:c.834G>A | ENSP00000397219.2:p.Thr278= | |
| ENST00000457584.6:c.834G>A | ENSP00000411061.2:p.Thr278= | |
| ENST00000463804.6:c.12G>A | ENSP00000465025.1:p.Thr4= | |
| ENST00000467699.5:n.952G>A | ||
| ENST00000498311.5:c.*2G>A | ENSP00000432991.1:n.*2G>A | |
| ENST00000534050.5:c.735G>A | ENSP00000434999.1:p.Thr245= | |
| NM_001143990.1:c.834G>A | NP_001137462.1:p.Thr278= | |
| NM_001143991.1:c.834G>A | NP_001137463.1:p.Thr278= | |
| NM_001143992.1:c.834G>A | NP_001137464.1:p.Thr278= | |
| NM_018081.2:c.834G>A , LRG_375t1:c.834G>A | NP_060551.2:p.Thr278= | |
| XM_011523952.1:c.195G>A | XP_011522254.1:p.Thr65= | |
| XM_011523952.2:c.195G>A | XP_011522254.1:p.Thr65= | |
| XM_024450824.1:c.-513G>A | XP_024306592.1:n.-513G>A | |
| XM_024450825.1:c.*2G>A | XP_024306593.1:n.*2G>A | |
| XR_001752551.2:n.1111G>A | ||
| NM_001143991.2:c.834G>A | NP_001137463.1:p.Thr278= | |
| NM_001143992.2:c.834G>A MANE Select | NP_001137464.1:p.Thr278= | |
| NM_001143990.2:c.834G>A | NP_001137462.1:p.Thr278= |