Linked Data
ClinVar Variation Id:
2928044
ClinVar RCV Id:
RCV003786866
dbSNP Id:
rs746014167
gnomAD v4:
11-68936263-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936263C>A , CM000673.2:g.68936263C>A | GRCh38 |
| NC_000011.9:g.68703731C>A , CM000673.1:g.68703731C>A | GRCh37 |
| NC_000011.8:g.68460307C>A | NCBI36 |
| NG_007976.1:g.37413C>A , LRG_250:g.37413C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1783C>A MANE Select | ENSP00000255078.4:p.Arg595= | |
| ENST00000674675.1:c.27C>A | ||
| ENST00000674878.1:c.27C>A | ||
| ENST00000674955.1:c.*500C>A | ENSP00000502463.1:n.*500C>A | |
| ENST00000675118.1:c.1271C>A | ||
| ENST00000675389.1:n.58C>A | ||
| ENST00000675615.1:c.1783C>A | ENSP00000502413.1:p.Arg595= | |
| ENST00000675648.1:n.1158C>A | ||
| ENST00000675916.1:c.27C>A | ||
| ENST00000676173.1:n.2528C>A | ||
| ENST00000676182.1:c.214C>A | ||
| ENST00000676228.1:c.*1106C>A | ENSP00000502375.1:n.*1106C>A | |
| ENST00000255078.7:c.1783C>A | ENSP00000255078.3:p.Arg595= | |
| ENST00000539064.5:n.1542C>A | ||
| ENST00000541229.5:n.478C>A | ||
| ENST00000543739.5:n.776C>A | ||
| ENST00000545475.1:n.379C>A | ||
| NM_002180.2:c.1783C>A , LRG_250t1:c.1783C>A | NP_002171.2:p.Arg595= | |
| XM_005273974.2:c.772C>A | XP_005274031.1:p.Arg258= | |
| XM_005273975.2:c.655C>A | XP_005274032.1:p.Arg219= | |
| XM_011544994.1:c.550C>A | XP_011543296.1:p.Arg184= | |
| XR_949903.1:n.1885C>A | ||
| XM_005273975.3:c.655C>A | XP_005274032.1:p.Arg219= | |
| XM_017017669.2:c.772C>A | XP_016873158.1:p.Arg258= | |
| XM_017017670.2:c.772C>A | XP_016873159.1:p.Arg258= | |
| XR_949903.3:n.1881C>A | ||
| NM_002180.3:c.1783C>A MANE Select | NP_002171.2:p.Arg595= |