Linked Data
ClinVar Variation Id:
60527
ClinVar RCV Id:
RCV000054423
dbSNP Id:
rs879255242
PubMed:
PMID:23746551
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57627704T>G , CM000674.2:g.57627704T>G | GRCh38 |
| NC_000012.11:g.58021487T>G , CM000674.1:g.58021487T>G | GRCh37 |
| NC_000012.10:g.56307754T>G | NCBI36 |
| NG_033849.1:g.10536A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341156.9:c.1298A>C MANE Select | ENSP00000341562.4:p.Asp433Ala | |
| ENST00000341156.8:c.1298A>C | ENSP00000341562.4:p.Asp433Ala | |
| ENST00000418555.6:c.1133A>C | ENSP00000401601.2:p.Asp378Ala | |
| ENST00000547741.1:c.346A>C | ||
| ENST00000552468.1:n.1662A>C | ||
| ENST00000552798.5:c.*561A>C | ENSP00000447076.1:n.*561A>C | |
| ENST00000553142.5:n.1942A>C | ||
| NM_001276468.1:c.1133A>C | NP_001263397.1:p.Asp378Ala | |
| NM_001478.4:c.1298A>C | NP_001469.1:p.Asp433Ala | |
| XM_005268773.3:c.1331A>C | XP_005268830.1:p.Asp444Ala | |
| XM_011538147.1:c.1349A>C | XP_011536449.1:p.Asp450Ala | |
| XM_011538148.1:c.1316A>C | XP_011536450.1:p.Asp439Ala | |
| XM_005268773.5:c.1331A>C | XP_005268830.1:p.Asp444Ala | |
| XM_011538147.3:c.1349A>C | XP_011536449.1:p.Asp450Ala | |
| XM_017019140.2:c.1433A>C | XP_016874629.1:p.Asp478Ala | |
| XM_017019141.1:c.1433A>C | XP_016874630.1:p.Asp478Ala | |
| XM_017019142.1:c.1298A>C | XP_016874631.1:p.Asp433Ala | |
| XM_024448928.1:c.1316A>C | XP_024304696.1:p.Asp439Ala | |
| XM_024448929.1:c.776A>C | XP_024304697.1:p.Asp259Ala | |
| XR_002957307.1:n.1715A>C | ||
| NM_001478.5:c.1298A>C MANE Select | NP_001469.1:p.Asp433Ala | |
| NM_001276468.2:c.1133A>C | NP_001263397.1:p.Asp378Ala |