Linked Data
ClinVar Variation Id:
11374
ClinVar RCV Id:
RCV000012127
dbSNP Id:
rs128621199
PubMed:
PMID:8162018
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101356858G>T , CM000685.2:g.101356858G>T | GRCh38 |
| NC_000023.10:g.100611846G>T , CM000685.1:g.100611846G>T | GRCh37 |
| NC_000023.9:g.100498502G>T | NCBI36 |
| NG_009616.1:g.34367C>A , LRG_128:g.34367C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.1435C>A | ||
| ENST00000488970.2:n.1433C>A | ||
| ENST00000695614.1:c.1275C>A | ENSP00000512053.1:p.Tyr425Ter | |
| ENST00000695615.1:c.1275C>A | ENSP00000512054.1:p.Tyr425Ter | |
| ENST00000695616.1:c.*1120C>A | ENSP00000512055.1:n.*1120C>A | |
| ENST00000695617.1:c.1272C>A | ENSP00000512056.1:p.Tyr424Ter | |
| ENST00000695618.1:c.*1024C>A | ENSP00000512058.1:n.*1024C>A | |
| ENST00000695619.1:c.*985C>A | ENSP00000512059.1:n.*985C>A | |
| ENST00000695620.1:c.*1120C>A | ENSP00000512060.1:n.*1120C>A | |
| ENST00000695621.1:c.1275C>A | ENSP00000512061.1:p.Tyr425Ter | |
| ENST00000695622.1:c.1212C>A | ENSP00000512062.1:p.Tyr404Ter | |
| ENST00000695623.1:c.1269C>A | ENSP00000512063.1:p.Tyr423Ter | |
| ENST00000695624.1:n.580C>A | ||
| ENST00000695625.1:c.1275C>A | ENSP00000512064.1:p.Tyr425Ter | |
| ENST00000695626.1:c.247C>A | ENSP00000512065.1:p.Arg83= | |
| ENST00000695627.1:c.288C>A | ENSP00000512066.1:p.Tyr96Ter | |
| ENST00000695628.1:c.190+651C>A | ENSP00000512067.1:n.190+651C>A | |
| ENST00000695629.1:c.190+651C>A | ENSP00000512068.1:n.190+651C>A | |
| ENST00000695630.1:c.284C>A | ||
| ENST00000695631.1:c.114+1452C>A | ||
| ENST00000695632.1:n.292C>A | ||
| ENST00000703407.1:c.1038+1516C>A | ENSP00000512057.1:n.1038+1516C>A | |
| ENST00000308731.8:c.1275C>A MANE Select | ENSP00000308176.8:p.Tyr425Ter | |
| ENST00000308731.7:c.1275C>A | ENSP00000308176.7:p.Tyr425Ter | |
| ENST00000372880.5:c.1038+1516C>A | ENSP00000361971.1:n.1038+1516C>A | |
| ENST00000470329.1:n.225C>A | ||
| ENST00000618050.4:c.1275C>A | ENSP00000479125.1:p.Tyr425Ter | |
| ENST00000621635.4:c.1377C>A | ENSP00000483570.1:p.Tyr459Ter | |
| NM_000061.2:c.1275C>A , LRG_128t1:c.1275C>A | NP_000052.1:p.Tyr425Ter | |
| NM_001287344.1:c.1377C>A | NP_001274273.1:p.Tyr459Ter | |
| NM_001287345.1:c.1038+1516C>A | NP_001274274.1:n.1038+1516C>A | |
| NM_000061.3:c.1275C>A MANE Select | NP_000052.1:p.Tyr425Ter | |
| NM_001287344.2:c.1377C>A | NP_001274273.1:p.Tyr459Ter | |
| NM_001287345.2:c.1038+1516C>A | NP_001274274.1:n.1038+1516C>A |