Linked Data
ClinVar Variation Id:
102443
dbSNP Id:
rs587777216
gnomAD v4:
11-125618475-T-C
PubMed:
PMID:23842455
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125618475T>C , CM000673.2:g.125618475T>C | GRCh38 |
| NC_000011.9:g.125488370T>C , CM000673.1:g.125488370T>C | GRCh37 |
| NC_000011.8:g.124993580T>C | NCBI36 |
| NG_042806.1:g.30681T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392708.9:c.1877T>C MANE Select | ENSP00000376472.3:p.Val626Ala | |
| ENST00000649491.1:c.1877T>C | ENSP00000497336.1:p.Val626Ala | |
| ENST00000392708.8:c.1877T>C | ENSP00000376472.3:p.Val626Ala | |
| ENST00000525946.5:n.726T>C | ||
| ENST00000529196.5:c.1877T>C | ENSP00000436962.1:p.Val626Ala | |
| ENST00000531491.5:c.1601T>C | ENSP00000432820.1:p.Val534Ala | |
| NM_001278503.1:c.1877T>C | NP_001265432.1:p.Val626Ala | |
| NM_001278504.1:c.1601T>C | NP_001265433.1:p.Val534Ala | |
| NM_152713.4:c.1877T>C | NP_689926.1:p.Val626Ala | |
| XM_011542807.1:c.1877T>C | XP_011541109.1:p.Val626Ala | |
| XM_011542807.3:c.1877T>C | XP_011541109.1:p.Val626Ala | |
| XR_001747860.2:n.2055T>C | ||
| NM_001278503.2:c.1877T>C | NP_001265432.1:p.Val626Ala | |
| NM_001278504.2:c.1601T>C | NP_001265433.1:p.Val534Ala | |
| NM_152713.5:c.1877T>C MANE Select | NP_689926.1:p.Val626Ala |