Linked Data
ClinVar Variation Id:
100774
ClinVar RCV Id:
RCV000087138
dbSNP Id:
rs587777157
ExAC:
20:428590 G / A
gnomAD v2:
20-428590-G-A
gnomAD v4:
20-447946-G-A
COSMIC:
COSM1027050
PubMed:
PMID:24239381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.447946G>A , CM000682.2:g.447946G>A | GRCh38 |
| NC_000020.10:g.428590G>A , CM000682.1:g.428590G>A | GRCh37 |
| NC_000020.9:g.376590G>A | NCBI36 |
| NG_034082.1:g.19608C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354200.5:c.199C>T MANE Select | ENSP00000346139.4:p.Arg67Ter | |
| ENST00000461188.6:n.155C>T | ||
| ENST00000679451.1:n.298C>T | ||
| ENST00000679741.1:c.199C>T | ENSP00000504904.1:p.Arg67Ter | |
| ENST00000679895.1:c.199C>T | ENSP00000505197.1:p.Arg67Ter | |
| ENST00000679944.1:c.199C>T | ENSP00000506278.1:p.Arg67Ter | |
| ENST00000679953.1:n.298C>T | ||
| ENST00000679973.1:c.199C>T | ENSP00000506502.1:p.Arg67Ter | |
| ENST00000680050.1:c.71-2816C>T | ENSP00000505464.1:n.71-2816C>T | |
| ENST00000680088.1:n.344C>T | ||
| ENST00000680106.1:c.199C>T | ENSP00000505500.1:p.Arg67Ter | |
| ENST00000680284.1:c.199C>T | ENSP00000506231.1:p.Arg67Ter | |
| ENST00000680491.1:n.325C>T | ||
| ENST00000680515.1:c.71-2816C>T | ENSP00000506650.1:n.71-2816C>T | |
| ENST00000680521.1:n.298C>T | ||
| ENST00000680792.1:c.199C>T | ENSP00000506012.1:p.Arg67Ter | |
| ENST00000680911.1:c.199C>T | ENSP00000506556.1:p.Arg67Ter | |
| ENST00000680990.1:c.199C>T | ENSP00000506050.1:p.Arg67Ter | |
| ENST00000681129.1:c.71-2816C>T | ENSP00000505329.1:n.71-2816C>T | |
| ENST00000681389.1:n.333C>T | ||
| ENST00000681414.1:c.199C>T | ENSP00000505797.1:p.Arg67Ter | |
| ENST00000681441.1:c.199C>T | ENSP00000504992.1:p.Arg67Ter | |
| ENST00000681539.1:c.199C>T | ENSP00000505557.1:p.Arg67Ter | |
| ENST00000681551.1:c.199C>T | ENSP00000504974.1:p.Arg67Ter | |
| ENST00000681636.1:c.199C>T | ENSP00000506155.1:p.Arg67Ter | |
| ENST00000681742.1:c.199C>T | ENSP00000506122.1:p.Arg67Ter | |
| ENST00000681777.1:c.199C>T | ENSP00000506511.1:p.Arg67Ter | |
| ENST00000354200.4:c.199C>T | ENSP00000346139.4:p.Arg67Ter | |
| ENST00000461304.5:c.199C>T | ENSP00000432280.1:p.Arg67Ter | |
| ENST00000494633.1:n.337C>T | ||
| NM_144628.3:c.199C>T | NP_653229.1:p.Arg67Ter | |
| NR_111901.1:n.347C>T | ||
| XM_005260661.1:c.199C>T | XP_005260718.1:p.Arg67Ter | |
| XM_006723540.2:c.71-2816C>T | XP_006723603.1:n.71-2816C>T | |
| XM_006723540.3:c.71-2816C>T | XP_006723603.1:n.71-2816C>T | |
| XM_017027645.1:c.71-2816C>T | XP_016883134.1:n.71-2816C>T | |
| NM_144628.4:c.199C>T MANE Select | NP_653229.1:p.Arg67Ter | |
| NR_111901.2:n.327C>T |