Linked Data
ClinVar Variation Id:
499808
dbSNP Id:
rs752024072
gnomAD v2:
11-68707085-C-T
gnomAD v4:
11-68939617-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68939617C>T , CM000673.2:g.68939617C>T | GRCh38 |
| NC_000011.9:g.68707085C>T , CM000673.1:g.68707085C>T | GRCh37 |
| NC_000011.8:g.68463661C>T | NCBI36 |
| NG_007976.1:g.40767C>T , LRG_250:g.40767C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2868C>T MANE Select | ENSP00000255078.4:p.Thr956= | |
| ENST00000675118.1:c.2356C>T | ||
| ENST00000675615.1:c.*67C>T | ENSP00000502413.1:n.*67C>T | |
| ENST00000675648.1:n.2430C>T | ||
| ENST00000675916.1:c.1299C>T | ||
| ENST00000676173.1:n.3613C>T | ||
| ENST00000255078.7:c.2868C>T | ENSP00000255078.3:p.Thr956= | |
| ENST00000543739.5:n.1861C>T | ||
| ENST00000544521.1:n.699C>T | ||
| NM_002180.2:c.2868C>T , LRG_250t1:c.2868C>T | NP_002171.2:p.Thr956= | |
| XM_005273974.2:c.1857C>T | XP_005274031.1:p.Thr619= | |
| XM_005273975.2:c.1740C>T | XP_005274032.1:p.Thr580= | |
| XM_011544994.1:c.1635C>T | XP_011543296.1:p.Thr545= | |
| XR_949903.1:n.3157C>T | ||
| XM_005273975.3:c.1740C>T | XP_005274032.1:p.Thr580= | |
| XM_017017669.2:c.1857C>T | XP_016873158.1:p.Thr619= | |
| XM_017017670.2:c.1857C>T | XP_016873159.1:p.Thr619= | |
| XR_949903.3:n.3153C>T | ||
| NM_002180.3:c.2868C>T MANE Select | NP_002171.2:p.Thr956= |