Linked Data
ClinVar Variation Id:
11390
ClinVar RCV Id:
RCV000012143
dbSNP Id:
rs128622211
PubMed:
PMID:8162056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101353196C>A , CM000685.2:g.101353196C>A | GRCh38 |
| NC_000023.10:g.100608184C>A , CM000685.1:g.100608184C>A | GRCh37 |
| NC_000023.9:g.100494840C>A | NCBI36 |
| NG_009616.1:g.38029G>T , LRG_128:g.38029G>T | |
| NG_011734.1:g.774G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3423G>T | ||
| ENST00000488970.2:n.4062G>T | ||
| ENST00000695614.1:c.1906G>T | ENSP00000512053.1:p.Glu636Ter | |
| ENST00000695615.1:c.1906G>T | ENSP00000512054.1:p.Glu636Ter | |
| ENST00000695616.1:c.*1751G>T | ENSP00000512055.1:n.*1751G>T | |
| ENST00000695617.1:c.1903G>T | ENSP00000512056.1:p.Glu635Ter | |
| ENST00000695618.1:c.*1655G>T | ENSP00000512058.1:n.*1655G>T | |
| ENST00000695619.1:c.*1616G>T | ENSP00000512059.1:n.*1616G>T | |
| ENST00000695620.1:c.*1832G>T | ENSP00000512060.1:n.*1832G>T | |
| ENST00000695621.1:c.*331G>T | ENSP00000512061.1:n.*331G>T | |
| ENST00000695622.1:c.1843G>T | ENSP00000512062.1:p.Glu615Ter | |
| ENST00000695623.1:c.1900G>T | ENSP00000512063.1:p.Glu634Ter | |
| ENST00000695624.1:n.1211G>T | ||
| ENST00000695625.1:c.1875+31G>T | ENSP00000512064.1:n.1875+31G>T | |
| ENST00000695626.1:c.661G>T | ENSP00000512065.1:n.661G>T | |
| ENST00000695627.1:c.854G>T | ENSP00000512066.1:n.854G>T | |
| ENST00000695628.1:c.465G>T | ENSP00000512067.1:n.465G>T | |
| ENST00000695629.1:c.346G>T | ENSP00000512068.1:p.Glu116Ter | |
| ENST00000695630.1:c.633G>T | ||
| ENST00000695631.1:c.167G>T | ||
| ENST00000703407.1:c.1378G>T | ENSP00000512057.1:p.Glu460Ter | |
| ENST00000308731.8:c.1906G>T MANE Select | ENSP00000308176.8:p.Glu636Ter | |
| ENST00000308731.7:c.1906G>T | ENSP00000308176.7:p.Glu636Ter | |
| ENST00000372880.5:c.1378G>T | ENSP00000361971.1:p.Glu460Ter | |
| ENST00000470069.1:n.271G>T | ||
| ENST00000618050.4:c.1905G>T | ENSP00000479125.1:n.1905G>T | |
| ENST00000621635.4:c.2008G>T | ENSP00000483570.1:p.Glu670Ter | |
| NM_000061.2:c.1906G>T , LRG_128t1:c.1906G>T | NP_000052.1:p.Glu636Ter | |
| NM_001287344.1:c.2008G>T | NP_001274273.1:p.Glu670Ter | |
| NM_001287345.1:c.1378G>T | NP_001274274.1:p.Glu460Ter | |
| NM_000061.3:c.1906G>T MANE Select | NP_000052.1:p.Glu636Ter | |
| NM_001287344.2:c.2008G>T | NP_001274273.1:p.Glu670Ter | |
| NM_001287345.2:c.1378G>T | NP_001274274.1:p.Glu460Ter |