Linked Data
ClinVar Variation Id:
348868
dbSNP Id:
rs146235069
gnomAD v2:
4-52888998-A-T
gnomAD v3:
4-52022832-A-T
gnomAD v4:
4-52022832-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52022832A>T , CM000666.2:g.52022832A>T | GRCh38 |
| NC_000004.11:g.52888998A>T , CM000666.1:g.52888998A>T | GRCh37 |
| NC_000004.10:g.52583755A>T | NCBI36 |
| NG_008891.1:g.20488T>A , LRG_204:g.20488T>A | |
| NG_053164.1:g.2480T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.*1125T>A MANE Select | ENSP00000370839.6:n.*1125T>A | |
| ENST00000381431.9:c.*1125T>A | ENSP00000370839.5:n.*1125T>A | |
| NM_000232.4:c.*1125T>A , LRG_204t1:c.*1125T>A | NP_000223.1:n.*1125T>A | |
| XM_006714049.2:c.*1125T>A | XP_006714112.1:n.*1125T>A | |
| XM_011534403.1:c.*1125T>A | XP_011532705.1:n.*1125T>A | |
| XM_011534404.1:c.*1125T>A | XP_011532706.1:n.*1125T>A | |
| NM_000232.5:c.*1125T>A MANE Select | NP_000223.1:n.*1125T>A |