Linked Data
ClinVar Variation Id:
11384
ClinVar RCV Id:
RCV000012137
dbSNP Id:
rs128621205
PubMed:
PMID:7849697
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101353879A>G , CM000685.2:g.101353879A>G | GRCh38 |
| NC_000023.10:g.100608867A>G , CM000685.1:g.100608867A>G | GRCh37 |
| NC_000023.9:g.100495523A>G | NCBI36 |
| NG_009616.1:g.37346T>C , LRG_128:g.37346T>C | |
| NG_011734.1:g.91T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3258T>C | ||
| ENST00000488970.2:n.3897T>C | ||
| ENST00000695614.1:c.1741T>C | ENSP00000512053.1:p.Trp581Arg | |
| ENST00000695615.1:c.1741T>C | ENSP00000512054.1:p.Trp581Arg | |
| ENST00000695616.1:c.*1586T>C | ENSP00000512055.1:n.*1586T>C | |
| ENST00000695617.1:c.1738T>C | ENSP00000512056.1:p.Trp580Arg | |
| ENST00000695618.1:c.*1490T>C | ENSP00000512058.1:n.*1490T>C | |
| ENST00000695619.1:c.*1451T>C | ENSP00000512059.1:n.*1451T>C | |
| ENST00000695620.1:c.*1667T>C | ENSP00000512060.1:n.*1667T>C | |
| ENST00000695621.1:c.*166T>C | ENSP00000512061.1:n.*166T>C | |
| ENST00000695622.1:c.1678T>C | ENSP00000512062.1:p.Trp560Arg | |
| ENST00000695623.1:c.1735T>C | ENSP00000512063.1:p.Trp579Arg | |
| ENST00000695624.1:n.1046T>C | ||
| ENST00000695625.1:c.1741T>C | ENSP00000512064.1:p.Trp581Arg | |
| ENST00000695626.1:c.496T>C | ENSP00000512065.1:n.496T>C | |
| ENST00000695627.1:c.689T>C | ENSP00000512066.1:n.689T>C | |
| ENST00000695628.1:c.300T>C | ENSP00000512067.1:n.300T>C | |
| ENST00000695629.1:c.191-528T>C | ENSP00000512068.1:n.191-528T>C | |
| ENST00000695630.1:c.468T>C | ||
| ENST00000695631.1:c.115-631T>C | ||
| ENST00000703407.1:c.1213T>C | ENSP00000512057.1:p.Trp405Arg | |
| ENST00000308731.8:c.1741T>C MANE Select | ENSP00000308176.8:p.Trp581Arg | |
| ENST00000308731.7:c.1741T>C | ENSP00000308176.7:p.Trp581Arg | |
| ENST00000372880.5:c.1213T>C | ENSP00000361971.1:p.Trp405Arg | |
| ENST00000470069.1:n.106T>C | ||
| ENST00000488970.1:n.343T>C | ||
| ENST00000618050.4:c.1740T>C | ENSP00000479125.1:n.1740T>C | |
| ENST00000621635.4:c.1843T>C | ENSP00000483570.1:p.Trp615Arg | |
| NM_000061.2:c.1741T>C , LRG_128t1:c.1741T>C | NP_000052.1:p.Trp581Arg | |
| NM_001287344.1:c.1843T>C | NP_001274273.1:p.Trp615Arg | |
| NM_001287345.1:c.1213T>C | NP_001274274.1:p.Trp405Arg | |
| NM_000061.3:c.1741T>C MANE Select | NP_000052.1:p.Trp581Arg | |
| NM_001287344.2:c.1843T>C | NP_001274273.1:p.Trp615Arg | |
| NM_001287345.2:c.1213T>C | NP_001274274.1:p.Trp405Arg |