Linked Data
ClinVar Variation Id:
304024
dbSNP Id:
rs146042684
ExAC:
11:20649543 C / T
gnomAD v2:
11-20649543-C-T
gnomAD v3:
11-20627997-C-T
gnomAD v4:
11-20627997-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20627997C>T , CM000673.2:g.20627997C>T | GRCh38 |
| NC_000011.9:g.20649543C>T , CM000673.1:g.20649543C>T | GRCh37 |
| NC_000011.8:g.20606119C>T | NCBI36 |
| NG_013086.1:g.33598C>T | |
| NG_013086.2:g.33598C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.1413C>T MANE Select | ENSP00000434364.2:p.Ala471= | |
| ENST00000298923.11:c.*710C>T | ENSP00000298923.7:n.*710C>T | |
| ENST00000525748.5:c.1413C>T | ENSP00000434364.1:p.Ala471= | |
| NM_004211.3:c.1413C>T | NP_004202.2:p.Ala471= | |
| XM_005253225.1:c.711C>T | XP_005253282.1:p.Ala237= | |
| XM_011520473.1:c.1413C>T | XP_011518775.1:p.Ala471= | |
| NM_001318369.1:c.711C>T | NP_001305298.1:p.Ala237= | |
| NM_004211.4:c.1413C>T | NP_004202.3:p.Ala471= | |
| XM_017018544.2:c.537C>T | XP_016874033.1:p.Ala179= | |
| XM_017018545.2:c.372C>T | XP_016874034.1:p.Ala124= | |
| NM_001318369.2:c.711C>T | NP_001305298.1:p.Ala237= | |
| NM_004211.5:c.1413C>T MANE Select | NP_004202.4:p.Ala471= |