Linked Data
ClinVar Variation Id:
11388
ClinVar RCV Id:
RCV000012141
dbSNP Id:
rs128621209
PubMed:
PMID:7849721
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101353264C>T , CM000685.2:g.101353264C>T | GRCh38 |
| NC_000023.10:g.100608252C>T , CM000685.1:g.100608252C>T | GRCh37 |
| NC_000023.9:g.100494908C>T | NCBI36 |
| NG_009616.1:g.37961G>A , LRG_128:g.37961G>A | |
| NG_011734.1:g.706G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3355G>A | ||
| ENST00000488970.2:n.3994G>A | ||
| ENST00000695614.1:c.1838G>A | ENSP00000512053.1:p.Gly613Asp | |
| ENST00000695615.1:c.1838G>A | ENSP00000512054.1:p.Gly613Asp | |
| ENST00000695616.1:c.*1683G>A | ENSP00000512055.1:n.*1683G>A | |
| ENST00000695617.1:c.1835G>A | ENSP00000512056.1:p.Gly612Asp | |
| ENST00000695618.1:c.*1587G>A | ENSP00000512058.1:n.*1587G>A | |
| ENST00000695619.1:c.*1548G>A | ENSP00000512059.1:n.*1548G>A | |
| ENST00000695620.1:c.*1764G>A | ENSP00000512060.1:n.*1764G>A | |
| ENST00000695621.1:c.*263G>A | ENSP00000512061.1:n.*263G>A | |
| ENST00000695622.1:c.1775G>A | ENSP00000512062.1:p.Gly592Asp | |
| ENST00000695623.1:c.1832G>A | ENSP00000512063.1:p.Gly611Asp | |
| ENST00000695624.1:n.1143G>A | ||
| ENST00000695625.1:c.1838G>A | ENSP00000512064.1:p.Gly613Asp | |
| ENST00000695626.1:c.593G>A | ENSP00000512065.1:n.593G>A | |
| ENST00000695627.1:c.786G>A | ENSP00000512066.1:n.786G>A | |
| ENST00000695628.1:c.397G>A | ENSP00000512067.1:n.397G>A | |
| ENST00000695629.1:c.278G>A | ENSP00000512068.1:p.Gly93Asp | |
| ENST00000695630.1:c.565G>A | ||
| ENST00000695631.1:c.115-16G>A | ||
| ENST00000703407.1:c.1310G>A | ENSP00000512057.1:p.Gly437Asp | |
| ENST00000308731.8:c.1838G>A MANE Select | ENSP00000308176.8:p.Gly613Asp | |
| ENST00000308731.7:c.1838G>A | ENSP00000308176.7:p.Gly613Asp | |
| ENST00000372880.5:c.1310G>A | ENSP00000361971.1:p.Gly437Asp | |
| ENST00000470069.1:n.203G>A | ||
| ENST00000618050.4:c.1837G>A | ENSP00000479125.1:n.1837G>A | |
| ENST00000621635.4:c.1940G>A | ENSP00000483570.1:p.Gly647Asp | |
| NM_000061.2:c.1838G>A , LRG_128t1:c.1838G>A | NP_000052.1:p.Gly613Asp | |
| NM_001287344.1:c.1940G>A | NP_001274273.1:p.Gly647Asp | |
| NM_001287345.1:c.1310G>A | NP_001274274.1:p.Gly437Asp | |
| NM_000061.3:c.1838G>A MANE Select | NP_000052.1:p.Gly613Asp | |
| NM_001287344.2:c.1940G>A | NP_001274273.1:p.Gly647Asp | |
| NM_001287345.2:c.1310G>A | NP_001274274.1:p.Gly437Asp |