Linked Data
ClinVar Variation Id:
344540
ClinVar RCV Id:
RCV000282583
dbSNP Id:
rs550799208
gnomAD v2:
3-24159113-G-A
gnomAD v3:
3-24117622-G-A
gnomAD v4:
3-24117622-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.24117622G>A , CM000665.2:g.24117622G>A | GRCh38 |
| NC_000003.11:g.24159113G>A , CM000665.1:g.24159113G>A | GRCh37 |
| NC_000003.10:g.24134117G>A | NCBI36 |
| NG_009159.1:g.382201C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396671.7:c.*5262C>T | ENSP00000379904.2:n.*5262C>T | |
| ENST00000646209.2:c.*5262C>T MANE Select | ENSP00000496686.2:n.*5262C>T | |
| ENST00000396671.6:c.*5262C>T | ENSP00000379904.2:n.*5262C>T | |
| NM_000461.4:c.*5262C>T | NP_000452.2:n.*5262C>T | |
| NM_001128176.2:c.*5262C>T | NP_001121648.1:n.*5262C>T | |
| NM_001128177.1:c.*5262C>T | NP_001121649.1:n.*5262C>T | |
| NM_001252634.1:c.*5262C>T | NP_001239563.1:n.*5262C>T | |
| NM_001354708.1:c.*5262C>T | NP_001341637.1:n.*5262C>T | |
| NM_001354709.1:c.*5262C>T | NP_001341638.1:n.*5262C>T | |
| NM_001354710.1:c.*5262C>T | NP_001341639.1:n.*5262C>T | |
| NM_001354711.1:c.*5262C>T | NP_001341640.1:n.*5262C>T | |
| NM_001354712.1:c.*5262C>T | NP_001341641.1:n.*5262C>T | |
| NM_001354713.1:c.*5262C>T | NP_001341642.1:n.*5262C>T | |
| NM_001354714.1:c.*5262C>T | NP_001341643.1:n.*5262C>T | |
| NM_001354715.1:c.*5262C>T | NP_001341644.1:n.*5262C>T | |
| NM_000461.5:c.*5262C>T | NP_000452.2:n.*5262C>T | |
| NM_001128176.3:c.*5262C>T | NP_001121648.1:n.*5262C>T | |
| NM_001128177.2:c.*5262C>T | NP_001121649.1:n.*5262C>T | |
| NM_001252634.2:c.*5262C>T | NP_001239563.1:n.*5262C>T | |
| NM_001354708.2:c.*5262C>T | NP_001341637.1:n.*5262C>T | |
| NM_001354709.2:c.*5262C>T | NP_001341638.1:n.*5262C>T | |
| NM_001354710.2:c.*5262C>T | NP_001341639.1:n.*5262C>T | |
| NM_001354711.2:c.*5262C>T | NP_001341640.1:n.*5262C>T | |
| NM_001354712.2:c.*5262C>T MANE Select | NP_001341641.1:n.*5262C>T | |
| NM_001354713.2:c.*5262C>T | NP_001341642.1:n.*5262C>T | |
| NM_001354714.2:c.*5262C>T | NP_001341643.1:n.*5262C>T | |
| NM_001354715.2:c.*5262C>T | NP_001341644.1:n.*5262C>T | |
| NM_001374822.1:c.*5262C>T | NP_001361751.1:n.*5262C>T | |
| NM_001374823.1:c.*5262C>T | NP_001361752.1:n.*5262C>T | |
| NM_001374824.1:c.*5262C>T | NP_001361753.1:n.*5262C>T | |
| NM_001374825.1:c.*5262C>T | NP_001361754.1:n.*5262C>T | |
| NM_001374826.1:c.*5262C>T | NP_001361755.1:n.*5262C>T | |
| NM_001374827.1:c.*5262C>T | NP_001361756.1:n.*5262C>T |