Linked Data
ClinVar Variation Id:
11362
ClinVar RCV Id:
RCV000012115
dbSNP Id:
rs128621192
PubMed:
PMID:7849697
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101360589C>T , CM000685.2:g.101360589C>T | GRCh38 |
| NC_000023.10:g.100615577C>T , CM000685.1:g.100615577C>T | GRCh37 |
| NC_000023.9:g.100502233C>T | NCBI36 |
| NG_009616.1:g.30636G>A , LRG_128:g.30636G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000464006.2:n.535G>A | ||
| ENST00000478995.2:n.915G>A | ||
| ENST00000488970.2:n.913G>A | ||
| ENST00000695614.1:c.755G>A | ENSP00000512053.1:p.Trp252Ter | |
| ENST00000695615.1:c.755G>A | ENSP00000512054.1:p.Trp252Ter | |
| ENST00000695616.1:c.*600G>A | ENSP00000512055.1:n.*600G>A | |
| ENST00000695617.1:c.752G>A | ENSP00000512056.1:p.Trp251Ter | |
| ENST00000695618.1:c.*504G>A | ENSP00000512058.1:n.*504G>A | |
| ENST00000695619.1:c.*600G>A | ENSP00000512059.1:n.*600G>A | |
| ENST00000695620.1:c.*600G>A | ENSP00000512060.1:n.*600G>A | |
| ENST00000695621.1:c.755G>A | ENSP00000512061.1:p.Trp252Ter | |
| ENST00000695622.1:c.755G>A | ENSP00000512062.1:p.Trp252Ter | |
| ENST00000695623.1:c.755G>A | ENSP00000512063.1:p.Trp252Ter | |
| ENST00000695625.1:c.755G>A | ENSP00000512064.1:p.Trp252Ter | |
| ENST00000703407.1:c.755G>A | ENSP00000512057.1:p.Trp252Ter | |
| ENST00000308731.8:c.755G>A MANE Select | ENSP00000308176.8:p.Trp252Ter | |
| ENST00000308731.7:c.755G>A | ENSP00000308176.7:p.Trp252Ter | |
| ENST00000372880.5:c.755G>A | ENSP00000361971.1:p.Trp252Ter | |
| ENST00000618050.4:c.755G>A | ENSP00000479125.1:p.Trp252Ter | |
| ENST00000621635.4:c.857G>A | ENSP00000483570.1:p.Trp286Ter | |
| NM_000061.2:c.755G>A , LRG_128t1:c.755G>A | NP_000052.1:p.Trp252Ter | |
| NM_001287344.1:c.857G>A | NP_001274273.1:p.Trp286Ter | |
| NM_001287345.1:c.755G>A | NP_001274274.1:p.Trp252Ter | |
| NM_000061.3:c.755G>A MANE Select | NP_000052.1:p.Trp252Ter | |
| NM_001287344.2:c.857G>A | NP_001274273.1:p.Trp286Ter | |
| NM_001287345.2:c.755G>A | NP_001274274.1:p.Trp252Ter |