Linked Data
ClinVar Variation Id:
47999
dbSNP Id:
rs34077456
ExAC:
11:17522631 C / A
gnomAD v2:
11-17522631-C-A
gnomAD v3:
11-17501084-C-A
gnomAD v4:
11-17501084-C-A
PubMed:
PMID:16679490
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17501084C>A , CM000673.2:g.17501084C>A | GRCh38 |
| NC_000011.9:g.17522631C>A , CM000673.1:g.17522631C>A | GRCh37 |
| NC_000011.8:g.17479207C>A | NCBI36 |
| NG_011883.1:g.48333G>T | |
| NG_011883.2:g.48333G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000005226.12:c.2347G>T MANE Select | ENSP00000005226.7:p.Ala783Ser | |
| ENST00000318024.9:c.1447G>T MANE Plus Clinical | ENSP00000317018.4:p.Ala483Ser | |
| ENST00000005226.11:c.2347G>T | ENSP00000005226.7:p.Ala783Ser | |
| ENST00000318024.8:c.1447G>T | ENSP00000317018.4:p.Ala483Ser | |
| ENST00000526313.5:c.*161G>T | ENSP00000432236.1:n.*161G>T | |
| ENST00000527020.5:c.1390G>T | ENSP00000436934.1:p.Ala464Ser | |
| ENST00000527720.5:c.1354G>T | ENSP00000432944.1:p.Ala452Ser | |
| ENST00000529563.5:n.331G>T | ||
| ENST00000534556.1:n.232G>T | ||
| NM_001297764.1:c.1390G>T | NP_001284693.1:p.Ala464Ser | |
| NM_005709.3:c.1447G>T | NP_005700.2:p.Ala483Ser | |
| NM_153676.3:c.2347G>T | NP_710142.1:p.Ala783Ser | |
| NR_123738.1:n.1482G>T | ||
| XM_011519831.1:c.2371G>T | XP_011518133.1:p.Ala791Ser | |
| XM_011519832.1:c.1600G>T | XP_011518134.1:p.Ala534Ser | |
| XM_011519833.1:c.*54G>T | XP_011518135.1:n.*54G>T | |
| XR_930841.1:n.1818G>T | ||
| XR_930842.1:n.1759G>T | ||
| XM_011519832.3:c.1600G>T | XP_011518134.1:p.Ala534Ser | |
| XM_017017075.1:c.2347G>T | XP_016872564.1:p.Ala783Ser | |
| XR_001747717.2:n.1606G>T | ||
| NM_153676.4:c.2347G>T MANE Select | NP_710142.1:p.Ala783Ser | |
| NM_001297764.2:c.1390G>T | NP_001284693.1:p.Ala464Ser | |
| NM_005709.4:c.1447G>T MANE Plus Clinical | NP_005700.2:p.Ala483Ser | |
| NR_123738.2:n.1482G>T |