Linked Data
ClinVar Variation Id:
488695
dbSNP Id:
rs773242930
ExAC:
11:68704316 C / T
gnomAD v2:
11-68704316-C-T
gnomAD v3:
11-68936848-C-T
gnomAD v4:
11-68936848-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936848C>T , CM000673.2:g.68936848C>T | GRCh38 |
| NC_000011.9:g.68704316C>T , CM000673.1:g.68704316C>T | GRCh37 |
| NC_000011.8:g.68460892C>T | NCBI36 |
| NG_007976.1:g.37998C>T , LRG_250:g.37998C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2368C>T MANE Select | ENSP00000255078.4:p.Arg790Ter | |
| ENST00000674675.1:c.587+25C>T | ||
| ENST00000674878.1:c.547+65C>T | ||
| ENST00000674955.1:c.*1085C>T | ENSP00000502463.1:n.*1085C>T | |
| ENST00000675118.1:c.1856C>T | ||
| ENST00000675389.1:n.643C>T | ||
| ENST00000675615.1:c.2368C>T | ENSP00000502413.1:p.Arg790Ter | |
| ENST00000675648.1:n.1743C>T | ||
| ENST00000675916.1:c.612C>T | ||
| ENST00000676173.1:n.3113C>T | ||
| ENST00000676182.1:c.799C>T | ||
| ENST00000676228.1:c.*1691C>T | ENSP00000502375.1:n.*1691C>T | |
| ENST00000255078.7:c.2368C>T | ENSP00000255078.3:p.Arg790Ter | |
| ENST00000539064.5:n.2127C>T | ||
| ENST00000543739.5:n.1361C>T | ||
| NM_002180.2:c.2368C>T , LRG_250t1:c.2368C>T | NP_002171.2:p.Arg790Ter | |
| XM_005273974.2:c.1357C>T | XP_005274031.1:p.Arg453Ter | |
| XM_005273975.2:c.1240C>T | XP_005274032.1:p.Arg414Ter | |
| XM_011544994.1:c.1135C>T | XP_011543296.1:p.Arg379Ter | |
| XR_949903.1:n.2470C>T | ||
| XM_005273975.3:c.1240C>T | XP_005274032.1:p.Arg414Ter | |
| XM_017017669.2:c.1357C>T | XP_016873158.1:p.Arg453Ter | |
| XM_017017670.2:c.1357C>T | XP_016873159.1:p.Arg453Ter | |
| XR_949903.3:n.2466C>T | ||
| NM_002180.3:c.2368C>T MANE Select | NP_002171.2:p.Arg790Ter |