Linked Data
ClinVar Variation Id:
344560
ClinVar RCV Id:
RCV000287655
dbSNP Id:
rs575525867
gnomAD v3:
3-24118695-C-G
gnomAD v4:
3-24118695-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.24118695C>G , CM000665.2:g.24118695C>G | GRCh38 |
| NC_000003.11:g.24160186C>G , CM000665.1:g.24160186C>G | GRCh37 |
| NC_000003.10:g.24135190C>G | NCBI36 |
| NG_009159.1:g.381128G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356447.9:c.*4189G>C | ENSP00000348827.4:n.*4189G>C | |
| ENST00000396671.7:c.*4189G>C | ENSP00000379904.2:n.*4189G>C | |
| ENST00000646209.2:c.*4189G>C MANE Select | ENSP00000496686.2:n.*4189G>C | |
| ENST00000356447.8:c.*4189G>C | ENSP00000348827.4:n.*4189G>C | |
| ENST00000396671.6:c.*4189G>C | ENSP00000379904.2:n.*4189G>C | |
| NM_000461.4:c.*4189G>C | NP_000452.2:n.*4189G>C | |
| NM_001128176.2:c.*4189G>C | NP_001121648.1:n.*4189G>C | |
| NM_001128177.1:c.*4189G>C | NP_001121649.1:n.*4189G>C | |
| NM_001252634.1:c.*4189G>C | NP_001239563.1:n.*4189G>C | |
| XM_005265421.3:c.*4189G>C | XP_005265478.1:n.*4189G>C | |
| XM_005265423.3:c.*4189G>C | XP_005265480.1:n.*4189G>C | |
| XM_005265424.2:c.*4189G>C | XP_005265481.1:n.*4189G>C | |
| XM_006713317.2:c.*4189G>C | XP_006713380.1:n.*4189G>C | |
| XM_006713318.2:c.*4189G>C | XP_006713381.1:n.*4189G>C | |
| XM_011534046.1:c.*4189G>C | XP_011532348.1:n.*4189G>C | |
| XM_011534047.1:c.*4189G>C | XP_011532349.1:n.*4189G>C | |
| XM_011534048.1:c.*4189G>C | XP_011532350.1:n.*4189G>C | |
| XM_011534049.1:c.*4189G>C | XP_011532351.1:n.*4189G>C | |
| XM_011534050.1:c.*4189G>C | XP_011532352.1:n.*4189G>C | |
| XM_011534051.1:c.*4189G>C | XP_011532353.1:n.*4189G>C | |
| XM_011534052.1:c.*4189G>C | XP_011532354.1:n.*4189G>C | |
| XM_011534053.1:c.*4189G>C | XP_011532355.1:n.*4189G>C | |
| NM_001354708.1:c.*4189G>C | NP_001341637.1:n.*4189G>C | |
| NM_001354709.1:c.*4189G>C | NP_001341638.1:n.*4189G>C | |
| NM_001354710.1:c.*4189G>C | NP_001341639.1:n.*4189G>C | |
| NM_001354711.1:c.*4189G>C | NP_001341640.1:n.*4189G>C | |
| NM_001354712.1:c.*4189G>C | NP_001341641.1:n.*4189G>C | |
| NM_001354713.1:c.*4189G>C | NP_001341642.1:n.*4189G>C | |
| NM_001354714.1:c.*4189G>C | NP_001341643.1:n.*4189G>C | |
| NM_001354715.1:c.*4189G>C | NP_001341644.1:n.*4189G>C | |
| XM_011534047.3:c.*4189G>C | XP_011532349.1:n.*4189G>C | |
| NM_000461.5:c.*4189G>C | NP_000452.2:n.*4189G>C | |
| NM_001128176.3:c.*4189G>C | NP_001121648.1:n.*4189G>C | |
| NM_001128177.2:c.*4189G>C | NP_001121649.1:n.*4189G>C | |
| NM_001252634.2:c.*4189G>C | NP_001239563.1:n.*4189G>C | |
| NM_001354708.2:c.*4189G>C | NP_001341637.1:n.*4189G>C | |
| NM_001354709.2:c.*4189G>C | NP_001341638.1:n.*4189G>C | |
| NM_001354710.2:c.*4189G>C | NP_001341639.1:n.*4189G>C | |
| NM_001354711.2:c.*4189G>C | NP_001341640.1:n.*4189G>C | |
| NM_001354712.2:c.*4189G>C MANE Select | NP_001341641.1:n.*4189G>C | |
| NM_001354713.2:c.*4189G>C | NP_001341642.1:n.*4189G>C | |
| NM_001354714.2:c.*4189G>C | NP_001341643.1:n.*4189G>C | |
| NM_001354715.2:c.*4189G>C | NP_001341644.1:n.*4189G>C | |
| NM_001374822.1:c.*4189G>C | NP_001361751.1:n.*4189G>C | |
| NM_001374823.1:c.*4189G>C | NP_001361752.1:n.*4189G>C | |
| NM_001374824.1:c.*4189G>C | NP_001361753.1:n.*4189G>C | |
| NM_001374825.1:c.*4189G>C | NP_001361754.1:n.*4189G>C | |
| NM_001374826.1:c.*4189G>C | NP_001361755.1:n.*4189G>C | |
| NM_001374827.1:c.*4189G>C | NP_001361756.1:n.*4189G>C |