Linked Data
ClinVar Variation Id:
11371
ClinVar RCV Id:
RCV000012124
dbSNP Id:
rs128621197
PubMed:
PMID:7849697
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101357561A>C , CM000685.2:g.101357561A>C | GRCh38 |
| NC_000023.10:g.100612549A>C , CM000685.1:g.100612549A>C | GRCh37 |
| NC_000023.9:g.100499205A>C | NCBI36 |
| NG_009616.1:g.33664T>G , LRG_128:g.33664T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.1285T>G | ||
| ENST00000488970.2:n.1283T>G | ||
| ENST00000695614.1:c.1125T>G | ENSP00000512053.1:p.Tyr375Ter | |
| ENST00000695615.1:c.1125T>G | ENSP00000512054.1:p.Tyr375Ter | |
| ENST00000695616.1:c.*970T>G | ENSP00000512055.1:n.*970T>G | |
| ENST00000695617.1:c.1122T>G | ENSP00000512056.1:p.Tyr374Ter | |
| ENST00000695618.1:c.*874T>G | ENSP00000512058.1:n.*874T>G | |
| ENST00000695619.1:c.*835T>G | ENSP00000512059.1:n.*835T>G | |
| ENST00000695620.1:c.*970T>G | ENSP00000512060.1:n.*970T>G | |
| ENST00000695621.1:c.1125T>G | ENSP00000512061.1:p.Tyr375Ter | |
| ENST00000695622.1:c.1062T>G | ENSP00000512062.1:p.Tyr354Ter | |
| ENST00000695623.1:c.1119T>G | ENSP00000512063.1:p.Tyr373Ter | |
| ENST00000695624.1:n.430T>G | ||
| ENST00000695625.1:c.1125T>G | ENSP00000512064.1:p.Tyr375Ter | |
| ENST00000695626.1:c.138T>G | ENSP00000512065.1:p.Tyr46Ter | |
| ENST00000695627.1:c.138T>G | ENSP00000512066.1:p.Tyr46Ter | |
| ENST00000695628.1:c.138T>G | ENSP00000512067.1:p.Tyr46Ter | |
| ENST00000695629.1:c.138T>G | ENSP00000512068.1:p.Tyr46Ter | |
| ENST00000695630.1:c.134T>G | ||
| ENST00000695631.1:c.114+749T>G | ||
| ENST00000695632.1:n.142T>G | ||
| ENST00000703407.1:c.1038+813T>G | ENSP00000512057.1:n.1038+813T>G | |
| ENST00000308731.8:c.1125T>G MANE Select | ENSP00000308176.8:p.Tyr375Ter | |
| ENST00000308731.7:c.1125T>G | ENSP00000308176.7:p.Tyr375Ter | |
| ENST00000372880.5:c.1038+813T>G | ENSP00000361971.1:n.1038+813T>G | |
| ENST00000470329.1:n.75T>G | ||
| ENST00000618050.4:c.1125T>G | ENSP00000479125.1:p.Tyr375Ter | |
| ENST00000621635.4:c.1227T>G | ENSP00000483570.1:p.Tyr409Ter | |
| NM_000061.2:c.1125T>G , LRG_128t1:c.1125T>G | NP_000052.1:p.Tyr375Ter | |
| NM_001287344.1:c.1227T>G | NP_001274273.1:p.Tyr409Ter | |
| NM_001287345.1:c.1038+813T>G | NP_001274274.1:n.1038+813T>G | |
| NM_000061.3:c.1125T>G MANE Select | NP_000052.1:p.Tyr375Ter | |
| NM_001287344.2:c.1227T>G | NP_001274273.1:p.Tyr409Ter | |
| NM_001287345.2:c.1038+813T>G | NP_001274274.1:n.1038+813T>G |