Linked Data
ClinVar Variation Id:
837288
ClinVar RCV Id:
RCV001038587
dbSNP Id:
rs543060051
ExAC:
11:68704307 C / T
gnomAD v2:
11-68704307-C-T
gnomAD v3:
11-68936839-C-T
gnomAD v4:
11-68936839-C-T
COSMIC:
COSM4479783
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936839C>T , CM000673.2:g.68936839C>T | GRCh38 |
| NC_000011.9:g.68704307C>T , CM000673.1:g.68704307C>T | GRCh37 |
| NC_000011.8:g.68460883C>T | NCBI36 |
| NG_007976.1:g.37989C>T , LRG_250:g.37989C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2359C>T MANE Select | ENSP00000255078.4:p.Pro787Ser | |
| ENST00000674675.1:c.587+16C>T | ||
| ENST00000674878.1:c.547+56C>T | ||
| ENST00000674955.1:c.*1076C>T | ENSP00000502463.1:n.*1076C>T | |
| ENST00000675118.1:c.1847C>T | ||
| ENST00000675389.1:n.634C>T | ||
| ENST00000675615.1:c.2359C>T | ENSP00000502413.1:p.Pro787Ser | |
| ENST00000675648.1:n.1734C>T | ||
| ENST00000675916.1:c.603C>T | ||
| ENST00000676173.1:n.3104C>T | ||
| ENST00000676182.1:c.790C>T | ||
| ENST00000676228.1:c.*1682C>T | ENSP00000502375.1:n.*1682C>T | |
| ENST00000255078.7:c.2359C>T | ENSP00000255078.3:p.Pro787Ser | |
| ENST00000539064.5:n.2118C>T | ||
| ENST00000543739.5:n.1352C>T | ||
| NM_002180.2:c.2359C>T , LRG_250t1:c.2359C>T | NP_002171.2:p.Pro787Ser | |
| XM_005273974.2:c.1348C>T | XP_005274031.1:p.Pro450Ser | |
| XM_005273975.2:c.1231C>T | XP_005274032.1:p.Pro411Ser | |
| XM_011544994.1:c.1126C>T | XP_011543296.1:p.Pro376Ser | |
| XR_949903.1:n.2461C>T | ||
| XM_005273975.3:c.1231C>T | XP_005274032.1:p.Pro411Ser | |
| XM_017017669.2:c.1348C>T | XP_016873158.1:p.Pro450Ser | |
| XM_017017670.2:c.1348C>T | XP_016873159.1:p.Pro450Ser | |
| XR_949903.3:n.2457C>T | ||
| NM_002180.3:c.2359C>T MANE Select | NP_002171.2:p.Pro787Ser |