Linked Data
ClinVar Variation Id:
198048
dbSNP Id:
rs759284637
ExAC:
17:73754611 G / A
gnomAD v2:
17-73754611-G-A
gnomAD v3:
17-75758530-G-A
gnomAD v4:
17-75758530-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75758530G>A , CM000679.2:g.75758530G>A | GRCh38 |
| NC_000017.10:g.73754611G>A , CM000679.1:g.73754611G>A | GRCh37 |
| NC_000017.9:g.71266206G>A | NCBI36 |
| NG_007372.1:g.42096G>A | |
| NG_008079.1:g.11670C>T | |
| NG_008079.2:g.11670C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587707.2:c.895C>T | ENSP00000468341.2:n.895C>T | |
| ENST00000592997.6:c.773C>T | ENSP00000464765.2:p.Thr258Met | |
| ENST00000588479.6:c.863C>T MANE Select | ENSP00000465930.1:p.Thr288Met | |
| ENST00000225614.6:c.863C>T | ENSP00000225614.1:p.Thr288Met | |
| ENST00000587707.1:c.649C>T | ENSP00000468341.1:n.649C>T | |
| ENST00000588479.5:c.863C>T | ENSP00000465930.1:p.Thr288Met | |
| ENST00000592997.5:c.239C>T | ENSP00000464765.1:p.Thr80Met | |
| NM_000154.1:c.863C>T | NP_000145.1:p.Thr288Met | |
| NM_000154.2:c.863C>T MANE Select | NP_000145.1:p.Thr288Met | |
| NM_001381985.1:c.863C>T | NP_001368914.1:p.Thr288Met |