Linked Data
ClinVar Variation Id:
11375
ClinVar RCV Id:
RCV000012128
dbSNP Id:
rs41310709
PubMed:
PMID:7849721
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101356112G>T , CM000685.2:g.101356112G>T | GRCh38 |
| NC_000023.10:g.100611100G>T , CM000685.1:g.100611100G>T | GRCh37 |
| NC_000023.9:g.100497756G>T | NCBI36 |
| NG_009616.1:g.35113C>A , LRG_128:g.35113C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.1666C>A | ||
| ENST00000488970.2:n.1664C>A | ||
| ENST00000695614.1:c.1506C>A | ENSP00000512053.1:p.Cys502Ter | |
| ENST00000695615.1:c.1506C>A | ENSP00000512054.1:p.Cys502Ter | |
| ENST00000695616.1:c.*1351C>A | ENSP00000512055.1:n.*1351C>A | |
| ENST00000695617.1:c.1503C>A | ENSP00000512056.1:p.Cys501Ter | |
| ENST00000695618.1:c.*1255C>A | ENSP00000512058.1:n.*1255C>A | |
| ENST00000695619.1:c.*1216C>A | ENSP00000512059.1:n.*1216C>A | |
| ENST00000695620.1:c.*1432C>A | ENSP00000512060.1:n.*1432C>A | |
| ENST00000695621.1:c.1506C>A | ENSP00000512061.1:p.Cys502Ter | |
| ENST00000695622.1:c.1443C>A | ENSP00000512062.1:p.Cys481Ter | |
| ENST00000695623.1:c.1500C>A | ENSP00000512063.1:p.Cys500Ter | |
| ENST00000695624.1:n.811C>A | ||
| ENST00000695625.1:c.1506C>A | ENSP00000512064.1:p.Cys502Ter | |
| ENST00000695626.1:c.321+672C>A | ENSP00000512065.1:n.321+672C>A | |
| ENST00000695627.1:c.519C>A | ENSP00000512066.1:p.Cys173Ter | |
| ENST00000695628.1:c.190+1397C>A | ENSP00000512067.1:n.190+1397C>A | |
| ENST00000695629.1:c.190+1397C>A | ENSP00000512068.1:n.190+1397C>A | |
| ENST00000695630.1:c.358+672C>A | ||
| ENST00000695631.1:c.114+2198C>A | ||
| ENST00000695632.1:n.366+672C>A | ||
| ENST00000703407.1:c.1039-1418C>A | ENSP00000512057.1:n.1039-1418C>A | |
| ENST00000308731.8:c.1506C>A MANE Select | ENSP00000308176.8:p.Cys502Ter | |
| ENST00000308731.7:c.1506C>A | ENSP00000308176.7:p.Cys502Ter | |
| ENST00000372880.5:c.1039-1418C>A | ENSP00000361971.1:n.1039-1418C>A | |
| ENST00000478995.1:n.178C>A | ||
| ENST00000618050.4:c.1506C>A | ENSP00000479125.1:p.Cys502Ter | |
| ENST00000621635.4:c.1608C>A | ENSP00000483570.1:p.Cys536Ter | |
| NM_000061.2:c.1506C>A , LRG_128t1:c.1506C>A | NP_000052.1:p.Cys502Ter | |
| NM_001287344.1:c.1608C>A | NP_001274273.1:p.Cys536Ter | |
| NM_001287345.1:c.1039-1418C>A | NP_001274274.1:n.1039-1418C>A | |
| NM_000061.3:c.1506C>A MANE Select | NP_000052.1:p.Cys502Ter | |
| NM_001287344.2:c.1608C>A | NP_001274273.1:p.Cys536Ter | |
| NM_001287345.2:c.1039-1418C>A | NP_001274274.1:n.1039-1418C>A |