Linked Data
ClinVar Variation Id:
223144
ClinVar RCV Id:
RCV000208767
dbSNP Id:
rs869025610
PubMed:
PMID:26789871
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47607C>T , CM000672.2:g.47607C>T | GRCh38 |
| NC_000010.10:g.93547C>T , CM000672.1:g.93547C>T | GRCh37 |
| NC_000010.9:g.83547C>T | NCBI36 |
| NG_046777.1:g.33849G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568584.6:c.785G>A MANE Select | ENSP00000456206.2:p.Arg262Gln | |
| ENST00000561967.1:c.*448G>A | ENSP00000454878.1:n.*448G>A | |
| ENST00000562809.1:c.*448G>A | ENSP00000456899.1:n.*448G>A | |
| ENST00000564130.2:c.683G>A | ENSP00000457610.1:p.Arg228Gln | |
| ENST00000567466.1:c.*629G>A | ENSP00000454914.1:n.*629G>A | |
| ENST00000568584.5:c.785G>A | ENSP00000456206.1:p.Arg262Gln | |
| ENST00000568866.5:c.674G>A | ENSP00000457062.1:p.Arg225Gln | |
| NM_177987.2:c.785G>A | NP_817124.1:p.Arg262Gln | |
| XM_011519458.1:c.569G>A | XP_011517760.1:p.Arg190Gln | |
| XM_011519459.1:c.569G>A | XP_011517761.1:p.Arg190Gln | |
| XM_011519460.1:c.326G>A | XP_011517762.1:p.Arg109Gln | |
| XM_011519459.3:c.569G>A | XP_011517761.1:p.Arg190Gln | |
| XM_011519460.2:c.326G>A | XP_011517762.1:p.Arg109Gln | |
| XM_017016192.2:c.449G>A | XP_016871681.1:p.Arg150Gln | |
| XM_017016193.2:c.449G>A | XP_016871682.1:p.Arg150Gln | |
| NM_177987.3:c.785G>A MANE Select | NP_817124.1:p.Arg262Gln | |
| NM_001389618.1:c.569G>A | NP_001376547.1:p.Arg190Gln | |
| NM_001389619.1:c.569G>A | NP_001376548.1:p.Arg190Gln |