Linked Data
ClinVar Variation Id:
234316
ClinVar RCV Id:
RCV000219401
RCV000235082
RCV000539394
RCV000780353
RCV001172566
RCV002390588
RCV002277579
dbSNP Id:
rs145226920
ExAC:
11:68701332 C / A
gnomAD v2:
11-68701332-C-A
gnomAD v3:
11-68933864-C-A
gnomAD v4:
11-68933864-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933864C>A , CM000673.2:g.68933864C>A | GRCh38 |
| NC_000011.9:g.68701332C>A , CM000673.1:g.68701332C>A | GRCh37 |
| NC_000011.8:g.68457908C>A | NCBI36 |
| NG_007976.1:g.35014C>A , LRG_250:g.35014C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1488C>A MANE Select | ENSP00000255078.4:p.Cys496Ter | |
| ENST00000674955.1:c.*205C>A | ENSP00000502463.1:n.*205C>A | |
| ENST00000675118.1:c.976C>A | ||
| ENST00000675205.1:n.183+383C>A | ||
| ENST00000675615.1:c.1488C>A | ENSP00000502413.1:p.Cys496Ter | |
| ENST00000675648.1:n.863C>A | ||
| ENST00000675997.1:n.113-600C>A | ||
| ENST00000676173.1:n.2233C>A | ||
| ENST00000676228.1:c.*811C>A | ENSP00000502375.1:n.*811C>A | |
| ENST00000255078.7:c.1488C>A | ENSP00000255078.3:p.Cys496Ter | |
| ENST00000537458.5:n.605C>A | ||
| ENST00000539064.5:n.1247C>A | ||
| ENST00000541229.5:n.183C>A | ||
| ENST00000543739.5:n.605C>A | ||
| NM_002180.2:c.1488C>A , LRG_250t1:c.1488C>A | NP_002171.2:p.Cys496Ter | |
| XM_005273974.2:c.477C>A | XP_005274031.1:p.Cys159Ter | |
| XM_005273975.2:c.360C>A | XP_005274032.1:p.Cys120Ter | |
| XM_011544994.1:c.255C>A | XP_011543296.1:p.Cys85Ter | |
| XR_949903.1:n.1590C>A | ||
| XM_005273975.3:c.360C>A | XP_005274032.1:p.Cys120Ter | |
| XM_017017669.2:c.477C>A | XP_016873158.1:p.Cys159Ter | |
| XM_017017670.2:c.477C>A | XP_016873159.1:p.Cys159Ter | |
| XM_017017671.2:c.1488C>A | XP_016873160.1:p.Cys496Ter | |
| XR_949903.3:n.1586C>A | ||
| NM_002180.3:c.1488C>A MANE Select | NP_002171.2:p.Cys496Ter |