Linked Data
ClinVar Variation Id:
100777
ClinVar RCV Id:
RCV000087141
dbSNP Id:
rs587777160
PubMed:
PMID:24239381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.440344C>T , CM000682.2:g.440344C>T | GRCh38 |
| NC_000020.10:g.420988C>T , CM000682.1:g.420988C>T | GRCh37 |
| NC_000020.9:g.368988C>T | NCBI36 |
| NG_034082.1:g.27210G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354200.5:c.672G>A MANE Select | ENSP00000346139.4:p.Trp224Ter | |
| ENST00000461188.6:n.1912G>A | ||
| ENST00000679451.1:n.893-27G>A | ||
| ENST00000679741.1:c.672G>A | ENSP00000504904.1:p.Trp224Ter | |
| ENST00000679895.1:c.768G>A | ENSP00000505197.1:p.Trp256Ter | |
| ENST00000679944.1:c.672G>A | ENSP00000506278.1:p.Trp224Ter | |
| ENST00000679953.1:n.1561G>A | ||
| ENST00000679973.1:c.627-27G>A | ENSP00000506502.1:n.627-27G>A | |
| ENST00000680050.1:c.486G>A | ENSP00000505464.1:p.Trp162Ter | |
| ENST00000680088.1:n.817G>A | ||
| ENST00000680106.1:c.672G>A | ENSP00000505500.1:p.Trp224Ter | |
| ENST00000680284.1:c.672G>A | ENSP00000506231.1:p.Trp224Ter | |
| ENST00000680491.1:n.2163G>A | ||
| ENST00000680515.1:c.486G>A | ENSP00000506650.1:p.Trp162Ter | |
| ENST00000680521.1:n.2136G>A | ||
| ENST00000680792.1:c.672G>A | ENSP00000506012.1:p.Trp224Ter | |
| ENST00000680815.1:n.3632G>A | ||
| ENST00000680911.1:c.627-27G>A | ENSP00000506556.1:n.627-27G>A | |
| ENST00000680990.1:c.*444G>A | ENSP00000506050.1:n.*444G>A | |
| ENST00000681129.1:c.486G>A | ENSP00000505329.1:p.Trp162Ter | |
| ENST00000681193.1:n.2914G>A | ||
| ENST00000681389.1:n.2004G>A | ||
| ENST00000681414.1:c.591G>A | ENSP00000505797.1:p.Trp197Ter | |
| ENST00000681441.1:c.*216G>A | ENSP00000504992.1:n.*216G>A | |
| ENST00000681539.1:c.672G>A | ENSP00000505557.1:p.Trp224Ter | |
| ENST00000681551.1:c.672G>A | ENSP00000504974.1:p.Trp224Ter | |
| ENST00000681636.1:c.672G>A | ENSP00000506155.1:p.Trp224Ter | |
| ENST00000681742.1:c.672G>A | ENSP00000506122.1:p.Trp224Ter | |
| ENST00000681777.1:c.*40G>A | ENSP00000506511.1:n.*40G>A | |
| ENST00000354200.4:c.672G>A | ENSP00000346139.4:p.Trp224Ter | |
| ENST00000461188.5:n.1549G>A | ||
| ENST00000461304.5:c.672G>A | ENSP00000432280.1:p.Trp224Ter | |
| ENST00000494633.1:n.977G>A | ||
| NM_144628.3:c.672G>A | NP_653229.1:p.Trp224Ter | |
| NR_111901.1:n.820G>A | ||
| XM_005260661.1:c.672G>A | XP_005260718.1:p.Trp224Ter | |
| XM_006723540.2:c.486G>A | XP_006723603.1:p.Trp162Ter | |
| XM_006723540.3:c.486G>A | XP_006723603.1:p.Trp162Ter | |
| XM_017027645.1:c.486G>A | XP_016883134.1:p.Trp162Ter | |
| NM_144628.4:c.672G>A MANE Select | NP_653229.1:p.Trp224Ter | |
| NR_111901.2:n.800G>A |