Linked Data
ClinVar Variation Id:
246190
dbSNP Id:
rs77807333
ExAC:
11:68704038 C / T
gnomAD v2:
11-68704038-C-T
gnomAD v3:
11-68936570-C-T
gnomAD v4:
11-68936570-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936570C>T , CM000673.2:g.68936570C>T | GRCh38 |
| NC_000011.9:g.68704038C>T , CM000673.1:g.68704038C>T | GRCh37 |
| NC_000011.8:g.68460614C>T | NCBI36 |
| NG_007976.1:g.37720C>T , LRG_250:g.37720C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2090C>T MANE Select | ENSP00000255078.4:p.Pro697Leu | |
| ENST00000674675.1:c.334C>T | ||
| ENST00000674878.1:c.334C>T | ||
| ENST00000674955.1:c.*807C>T | ENSP00000502463.1:n.*807C>T | |
| ENST00000675118.1:c.1578C>T | ||
| ENST00000675389.1:n.365C>T | ||
| ENST00000675615.1:c.2090C>T | ENSP00000502413.1:p.Pro697Leu | |
| ENST00000675648.1:n.1465C>T | ||
| ENST00000675916.1:c.334C>T | ||
| ENST00000676173.1:n.2835C>T | ||
| ENST00000676182.1:c.521C>T | ||
| ENST00000676228.1:c.*1413C>T | ENSP00000502375.1:n.*1413C>T | |
| ENST00000255078.7:c.2090C>T | ENSP00000255078.3:p.Pro697Leu | |
| ENST00000539064.5:n.1849C>T | ||
| ENST00000543739.5:n.1083C>T | ||
| NM_002180.2:c.2090C>T , LRG_250t1:c.2090C>T | NP_002171.2:p.Pro697Leu | |
| XM_005273974.2:c.1079C>T | XP_005274031.1:p.Pro360Leu | |
| XM_005273975.2:c.962C>T | XP_005274032.1:p.Pro321Leu | |
| XM_011544994.1:c.857C>T | XP_011543296.1:p.Pro286Leu | |
| XR_949903.1:n.2192C>T | ||
| XM_005273975.3:c.962C>T | XP_005274032.1:p.Pro321Leu | |
| XM_017017669.2:c.1079C>T | XP_016873158.1:p.Pro360Leu | |
| XM_017017670.2:c.1079C>T | XP_016873159.1:p.Pro360Leu | |
| XR_949903.3:n.2188C>T | ||
| NM_002180.3:c.2090C>T MANE Select | NP_002171.2:p.Pro697Leu |