Linked Data
ClinVar Variation Id:
221268
ClinVar RCV Id:
RCV000207100
dbSNP Id:
rs869025271
PubMed:
PMID:26789871
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47706A>G , CM000672.2:g.47706A>G | GRCh38 |
| NC_000010.10:g.93646A>G , CM000672.1:g.93646A>G | GRCh37 |
| NC_000010.9:g.83646A>G | NCBI36 |
| NG_046777.1:g.33750T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568584.6:c.686T>C MANE Select | ENSP00000456206.2:p.Val229Ala | |
| ENST00000561967.1:c.*349T>C | ENSP00000454878.1:n.*349T>C | |
| ENST00000562809.1:c.*349T>C | ENSP00000456899.1:n.*349T>C | |
| ENST00000563456.1:n.795T>C | ||
| ENST00000564130.2:c.584T>C | ENSP00000457610.1:p.Val195Ala | |
| ENST00000567466.1:c.*530T>C | ENSP00000454914.1:n.*530T>C | |
| ENST00000568584.5:c.686T>C | ENSP00000456206.1:p.Val229Ala | |
| ENST00000568866.5:c.575T>C | ENSP00000457062.1:p.Val192Ala | |
| NM_177987.2:c.686T>C | NP_817124.1:p.Val229Ala | |
| XM_011519458.1:c.470T>C | XP_011517760.1:p.Val157Ala | |
| XM_011519459.1:c.470T>C | XP_011517761.1:p.Val157Ala | |
| XM_011519460.1:c.227T>C | XP_011517762.1:p.Val76Ala | |
| XM_011519459.3:c.470T>C | XP_011517761.1:p.Val157Ala | |
| XM_011519460.2:c.227T>C | XP_011517762.1:p.Val76Ala | |
| XM_017016192.2:c.350T>C | XP_016871681.1:p.Val117Ala | |
| XM_017016193.2:c.350T>C | XP_016871682.1:p.Val117Ala | |
| NM_177987.3:c.686T>C MANE Select | NP_817124.1:p.Val229Ala | |
| NM_001389618.1:c.470T>C | NP_001376547.1:p.Val157Ala | |
| NM_001389619.1:c.470T>C | NP_001376548.1:p.Val157Ala |