Linked Data
ClinVar Variation Id:
11387
ClinVar RCV Id:
RCV000012140
dbSNP Id:
rs128621208
PubMed:
PMID:8162056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101353282G>T , CM000685.2:g.101353282G>T | GRCh38 |
| NC_000023.10:g.100608270G>T , CM000685.1:g.100608270G>T | GRCh37 |
| NC_000023.9:g.100494926G>T | NCBI36 |
| NG_009616.1:g.37943C>A , LRG_128:g.37943C>A | |
| NG_011734.1:g.688C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3337C>A | ||
| ENST00000488970.2:n.3976C>A | ||
| ENST00000695614.1:c.1820C>A | ENSP00000512053.1:p.Ala607Asp | |
| ENST00000695615.1:c.1820C>A | ENSP00000512054.1:p.Ala607Asp | |
| ENST00000695616.1:c.*1665C>A | ENSP00000512055.1:n.*1665C>A | |
| ENST00000695617.1:c.1817C>A | ENSP00000512056.1:p.Ala606Asp | |
| ENST00000695618.1:c.*1569C>A | ENSP00000512058.1:n.*1569C>A | |
| ENST00000695619.1:c.*1530C>A | ENSP00000512059.1:n.*1530C>A | |
| ENST00000695620.1:c.*1746C>A | ENSP00000512060.1:n.*1746C>A | |
| ENST00000695621.1:c.*245C>A | ENSP00000512061.1:n.*245C>A | |
| ENST00000695622.1:c.1757C>A | ENSP00000512062.1:p.Ala586Asp | |
| ENST00000695623.1:c.1814C>A | ENSP00000512063.1:p.Ala605Asp | |
| ENST00000695624.1:n.1125C>A | ||
| ENST00000695625.1:c.1820C>A | ENSP00000512064.1:p.Ala607Asp | |
| ENST00000695626.1:c.575C>A | ENSP00000512065.1:n.575C>A | |
| ENST00000695627.1:c.768C>A | ENSP00000512066.1:n.768C>A | |
| ENST00000695628.1:c.379C>A | ENSP00000512067.1:n.379C>A | |
| ENST00000695629.1:c.260C>A | ENSP00000512068.1:p.Ala87Asp | |
| ENST00000695630.1:c.547C>A | ||
| ENST00000695631.1:c.115-34C>A | ||
| ENST00000703407.1:c.1292C>A | ENSP00000512057.1:p.Ala431Asp | |
| ENST00000308731.8:c.1820C>A MANE Select | ENSP00000308176.8:p.Ala607Asp | |
| ENST00000308731.7:c.1820C>A | ENSP00000308176.7:p.Ala607Asp | |
| ENST00000372880.5:c.1292C>A | ENSP00000361971.1:p.Ala431Asp | |
| ENST00000470069.1:n.185C>A | ||
| ENST00000618050.4:c.1819C>A | ENSP00000479125.1:n.1819C>A | |
| ENST00000621635.4:c.1922C>A | ENSP00000483570.1:p.Ala641Asp | |
| NM_000061.2:c.1820C>A , LRG_128t1:c.1820C>A | NP_000052.1:p.Ala607Asp | |
| NM_001287344.1:c.1922C>A | NP_001274273.1:p.Ala641Asp | |
| NM_001287345.1:c.1292C>A | NP_001274274.1:p.Ala431Asp | |
| NM_000061.3:c.1820C>A MANE Select | NP_000052.1:p.Ala607Asp | |
| NM_001287344.2:c.1922C>A | NP_001274273.1:p.Ala641Asp | |
| NM_001287345.2:c.1292C>A | NP_001274274.1:p.Ala431Asp |