Linked Data
ClinVar Variation Id:
29732
ClinVar RCV Id:
RCV000022584
dbSNP Id:
rs387906637
PubMed:
PMID:20890276
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9938314G>A , CM000678.2:g.9938314G>A | GRCh38 |
| NC_000016.9:g.10032171G>A , CM000678.1:g.10032171G>A | GRCh37 |
| NC_000016.8:g.9939672G>A | NCBI36 |
| NG_011812.1:g.249441C>T | |
| NG_011812.2:g.249441C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330684.4:c.652C>T MANE Select | ENSP00000332549.3:p.Gln218Ter | |
| ENST00000535259.6:c.181C>T | ENSP00000441572.3:p.Gln61Ter | |
| ENST00000636273.2:n.245C>T | ||
| ENST00000637393.1:c.244C>T | ENSP00000490232.1:p.Gln82Ter | |
| ENST00000674742.1:c.181C>T | ENSP00000502200.1:p.Gln61Ter | |
| ENST00000675189.1:n.1136C>T | ||
| ENST00000675398.1:c.652C>T | ENSP00000502752.1:p.Gln218Ter | |
| ENST00000330684.3:c.652C>T | ENSP00000332549.3:p.Gln218Ter | |
| ENST00000396573.6:c.652C>T | ENSP00000379818.2:p.Gln218Ter | |
| ENST00000396575.6:c.241C>T | ENSP00000379820.3:p.Gln81Ter | |
| ENST00000461292.3:n.291C>T | ||
| ENST00000535259.5:c.241C>T | ENSP00000441572.2:p.Gln81Ter | |
| ENST00000562109.5:c.652C>T | ENSP00000454998.1:p.Gln218Ter | |
| ENST00000566670.2:n.494C>T | ||
| ENST00000566683.1:n.241-47214C>T | ||
| ENST00000568247.3:n.544C>T | ||
| NM_000833.4:c.652C>T | NP_000824.1:p.Gln218Ter | |
| NM_001134407.2:c.652C>T | NP_001127879.1:p.Gln218Ter | |
| NM_001134408.2:c.652C>T | NP_001127880.1:p.Gln218Ter | |
| XM_011522456.1:c.493C>T | XP_011520758.1:p.Gln165Ter | |
| XM_011522457.1:c.394C>T | XP_011520759.1:p.Gln132Ter | |
| XM_011522458.1:c.181C>T | XP_011520760.1:p.Gln61Ter | |
| XM_011522459.1:c.181C>T | XP_011520761.1:p.Gln61Ter | |
| XM_011522460.1:c.181C>T | XP_011520762.1:p.Gln61Ter | |
| XM_011522461.1:c.652C>T | XP_011520763.1:p.Gln218Ter | |
| XM_011522458.3:c.181C>T | XP_011520760.1:p.Gln61Ter | |
| XM_011522461.3:c.652C>T | XP_011520763.1:p.Gln218Ter | |
| XM_017023172.1:c.808C>T | XP_016878661.1:p.Gln270Ter | |
| XM_017023173.1:c.808C>T | XP_016878662.1:p.Gln270Ter | |
| NM_001134407.3:c.652C>T MANE Select | NP_001127879.1:p.Gln218Ter | |
| NM_000833.5:c.652C>T | NP_000824.1:p.Gln218Ter |