Linked Data
ClinVar Variation Id:
1033
ClinVar RCV Id:
RCV000001088
dbSNP Id:
rs267607041
PubMed:
PMID:20436468
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.44951943A>C , CM000680.2:g.44951943A>C | GRCh38 |
| NC_000018.9:g.42531908A>C , CM000680.1:g.42531908A>C | GRCh37 |
| NC_000018.8:g.40785906A>C | NCBI36 |
| NG_027527.1:g.276771A>C | |
| NG_027527.2:g.276771A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649279.2:c.2603A>C MANE Select | ENSP00000497406.1:p.Asp868Ala | |
| ENST00000677068.1:c.2603A>C | ENSP00000504398.1:p.Asp868Ala | |
| ENST00000677077.1:c.2603A>C | ENSP00000503656.1:p.Asp868Ala | |
| ENST00000677130.1:c.2603A>C | ENSP00000503094.1:p.Asp868Ala | |
| ENST00000677699.1:c.2603A>C | ENSP00000503964.1:p.Asp868Ala | |
| ENST00000678152.1:c.2603A>C | ENSP00000502995.1:p.Asp868Ala | |
| ENST00000282030.5:c.2603A>C | ENSP00000282030.5:p.Asp868Ala | |
| NM_015559.2:c.2603A>C | NP_056374.2:p.Asp868Ala | |
| XM_005258243.3:c.2603A>C | XP_005258300.1:p.Asp868Ala | |
| NM_015559.3:c.2603A>C MANE Select | NP_056374.2:p.Asp868Ala | |
| XM_024451149.1:c.2681A>C | XP_024306917.1:p.Asp894Ala | |
| XM_024451150.1:c.2681A>C | XP_024306918.1:p.Asp894Ala | |
| XM_024451151.1:c.2681A>C | XP_024306919.1:p.Asp894Ala | |
| XM_024451152.1:c.2681A>C | XP_024306920.1:p.Asp894Ala | |
| XM_024451153.1:c.2603A>C | XP_024306921.1:p.Asp868Ala | |
| XM_024451154.1:c.2603A>C | XP_024306922.1:p.Asp868Ala | |
| XM_024451155.1:c.2603A>C | XP_024306923.1:p.Asp868Ala | |
| XM_024451156.1:c.2681A>C | XP_024306924.1:p.Asp894Ala | |
| XM_024451157.1:c.2126A>C | XP_024306925.1:p.Asp709Ala | |
| XM_024451158.1:c.2681A>C | XP_024306926.1:p.Asp894Ala | |
| NM_001379141.1:c.2603A>C | NP_001366070.1:p.Asp868Ala | |
| NM_001379142.1:c.2603A>C | NP_001366071.1:p.Asp868Ala |