Linked Data
ClinVar Variation Id:
738096
ClinVar RCV Id:
RCV002065855
dbSNP Id:
rs1352575247
gnomAD v2:
11-20649573-A-T
gnomAD v4:
11-20628027-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20628027A>T , CM000673.2:g.20628027A>T | GRCh38 |
| NC_000011.9:g.20649573A>T , CM000673.1:g.20649573A>T | GRCh37 |
| NC_000011.8:g.20606149A>T | NCBI36 |
| NG_013086.1:g.33628A>T | |
| NG_013086.2:g.33628A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.1443A>T MANE Select | ENSP00000434364.2:p.Ala481= | |
| ENST00000298923.11:c.*740A>T | ENSP00000298923.7:n.*740A>T | |
| ENST00000525748.5:c.1443A>T | ENSP00000434364.1:p.Ala481= | |
| NM_004211.3:c.1443A>T | NP_004202.2:p.Ala481= | |
| XM_005253225.1:c.741A>T | XP_005253282.1:p.Ala247= | |
| XM_011520473.1:c.1443A>T | XP_011518775.1:p.Ala481= | |
| NM_001318369.1:c.741A>T | NP_001305298.1:p.Ala247= | |
| NM_004211.4:c.1443A>T | NP_004202.3:p.Ala481= | |
| XM_017018544.2:c.567A>T | XP_016874033.1:p.Ala189= | |
| XM_017018545.2:c.402A>T | XP_016874034.1:p.Ala134= | |
| NM_001318369.2:c.741A>T | NP_001305298.1:p.Ala247= | |
| NM_004211.5:c.1443A>T MANE Select | NP_004202.4:p.Ala481= |