Linked Data
ClinVar Variation Id:
234691
dbSNP Id:
rs747465472
ExAC:
11:68703861 C / T
gnomAD v2:
11-68703861-C-T
gnomAD v3:
11-68936393-C-T
gnomAD v4:
11-68936393-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936393C>T , CM000673.2:g.68936393C>T | GRCh38 |
| NC_000011.9:g.68703861C>T , CM000673.1:g.68703861C>T | GRCh37 |
| NC_000011.8:g.68460437C>T | NCBI36 |
| NG_007976.1:g.37543C>T , LRG_250:g.37543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1913C>T MANE Select | ENSP00000255078.4:p.Thr638Met | |
| ENST00000674675.1:c.157C>T | ||
| ENST00000674878.1:c.157C>T | ||
| ENST00000674955.1:c.*630C>T | ENSP00000502463.1:n.*630C>T | |
| ENST00000675118.1:c.1401C>T | ||
| ENST00000675389.1:n.188C>T | ||
| ENST00000675615.1:c.1913C>T | ENSP00000502413.1:p.Thr638Met | |
| ENST00000675648.1:n.1288C>T | ||
| ENST00000675916.1:c.157C>T | ||
| ENST00000676173.1:n.2658C>T | ||
| ENST00000676182.1:c.344C>T | ||
| ENST00000676228.1:c.*1236C>T | ENSP00000502375.1:n.*1236C>T | |
| ENST00000255078.7:c.1913C>T | ENSP00000255078.3:p.Thr638Met | |
| ENST00000539064.5:n.1672C>T | ||
| ENST00000543739.5:n.906C>T | ||
| ENST00000545475.1:n.509C>T | ||
| NM_002180.2:c.1913C>T , LRG_250t1:c.1913C>T | NP_002171.2:p.Thr638Met | |
| XM_005273974.2:c.902C>T | XP_005274031.1:p.Thr301Met | |
| XM_005273975.2:c.785C>T | XP_005274032.1:p.Thr262Met | |
| XM_011544994.1:c.680C>T | XP_011543296.1:p.Thr227Met | |
| XR_949903.1:n.2015C>T | ||
| XM_005273975.3:c.785C>T | XP_005274032.1:p.Thr262Met | |
| XM_017017669.2:c.902C>T | XP_016873158.1:p.Thr301Met | |
| XM_017017670.2:c.902C>T | XP_016873159.1:p.Thr301Met | |
| XR_949903.3:n.2011C>T | ||
| NM_002180.3:c.1913C>T MANE Select | NP_002171.2:p.Thr638Met |