Linked Data
ClinVar Variation Id:
492921
dbSNP Id:
rs367757240
gnomAD v3:
3-24122958-G-A
gnomAD v4:
3-24122958-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.24122958G>A , CM000665.2:g.24122958G>A | GRCh38 |
| NC_000003.11:g.24164449G>A , CM000665.1:g.24164449G>A | GRCh37 |
| NC_000003.10:g.24139453G>A | NCBI36 |
| NG_009159.1:g.376865C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356447.9:c.1312C>T | ENSP00000348827.4:p.Arg438Cys | |
| ENST00000396671.7:c.1312C>T | ENSP00000379904.2:p.Arg438Cys | |
| ENST00000642307.1:c.1312C>T | ENSP00000494618.1:p.Arg438Cys | |
| ENST00000643772.1:c.1312C>T | ENSP00000496029.1:p.Arg438Cys | |
| ENST00000644321.1:c.1312C>T | ENSP00000496616.1:p.Arg438Cys | |
| ENST00000645139.1:c.1312C>T | ENSP00000493709.1:p.Arg438Cys | |
| ENST00000646209.2:c.1312C>T MANE Select | ENSP00000496686.2:p.Arg438Cys | |
| ENST00000646432.1:c.1312C>T | ENSP00000496509.1:p.Arg438Cys | |
| ENST00000646966.1:c.*1941C>T | ENSP00000496095.1:n.*1941C>T | |
| ENST00000280696.9:c.1357C>T | ENSP00000280696.5:p.Arg453Cys | |
| ENST00000356447.8:c.1312C>T | ENSP00000348827.4:p.Arg438Cys | |
| ENST00000396671.6:c.1312C>T | ENSP00000379904.2:p.Arg438Cys | |
| ENST00000416420.5:c.1312C>T | ENSP00000414444.1:p.Arg438Cys | |
| NM_000461.4:c.1312C>T | NP_000452.2:p.Arg438Cys | |
| NM_001128176.2:c.1312C>T | NP_001121648.1:p.Arg438Cys | |
| NM_001128177.1:c.1312C>T | NP_001121649.1:p.Arg438Cys | |
| NM_001252634.1:c.1312C>T | NP_001239563.1:p.Arg438Cys | |
| XM_005265421.3:c.1312C>T | XP_005265478.1:p.Arg438Cys | |
| XM_005265423.3:c.1312C>T | XP_005265480.1:p.Arg438Cys | |
| XM_005265424.2:c.1312C>T | XP_005265481.1:p.Arg438Cys | |
| XM_006713317.2:c.1312C>T | XP_006713380.1:p.Arg438Cys | |
| XM_006713318.2:c.1312C>T | XP_006713381.1:p.Arg438Cys | |
| XM_011534046.1:c.1312C>T | XP_011532348.1:p.Arg438Cys | |
| XM_011534047.1:c.1312C>T | XP_011532349.1:p.Arg438Cys | |
| XM_011534048.1:c.1312C>T | XP_011532350.1:p.Arg438Cys | |
| XM_011534049.1:c.1312C>T | XP_011532351.1:p.Arg438Cys | |
| XM_011534050.1:c.1312C>T | XP_011532352.1:p.Arg438Cys | |
| XM_011534051.1:c.1312C>T | XP_011532353.1:p.Arg438Cys | |
| XM_011534052.1:c.1312C>T | XP_011532354.1:p.Arg438Cys | |
| XM_011534053.1:c.1219C>T | XP_011532355.1:p.Arg407Cys | |
| NM_001354708.1:c.1312C>T | NP_001341637.1:p.Arg438Cys | |
| NM_001354709.1:c.1312C>T | NP_001341638.1:p.Arg438Cys | |
| NM_001354710.1:c.1312C>T | NP_001341639.1:p.Arg438Cys | |
| NM_001354711.1:c.1312C>T | NP_001341640.1:p.Arg438Cys | |
| NM_001354712.1:c.1312C>T | NP_001341641.1:p.Arg438Cys | |
| NM_001354713.1:c.1312C>T | NP_001341642.1:p.Arg438Cys | |
| NM_001354714.1:c.1219C>T | NP_001341643.1:p.Arg407Cys | |
| NM_001354715.1:c.1219C>T | NP_001341644.1:p.Arg407Cys | |
| XM_006713318.3:c.1312C>T | XP_006713381.1:p.Arg438Cys | |
| XM_011534047.3:c.1312C>T | XP_011532349.1:p.Arg438Cys | |
| XM_011534050.2:c.1312C>T | XP_011532352.1:p.Arg438Cys | |
| XM_011534052.2:c.1312C>T | XP_011532354.1:p.Arg438Cys | |
| XM_011534053.2:c.1219C>T | XP_011532355.1:p.Arg407Cys | |
| XM_017007109.1:c.1312C>T | XP_016862598.1:p.Arg438Cys | |
| XM_017007111.1:c.1312C>T | XP_016862600.1:p.Arg438Cys | |
| XM_017007112.1:c.1312C>T | XP_016862601.1:p.Arg438Cys | |
| XM_017007113.1:c.1219C>T | XP_016862602.1:p.Arg407Cys | |
| XM_024453733.1:c.1312C>T | XP_024309501.1:p.Arg438Cys | |
| XM_024453734.1:c.1312C>T | XP_024309502.1:p.Arg438Cys | |
| XM_024453735.1:c.1312C>T | XP_024309503.1:p.Arg438Cys | |
| XM_024453736.1:c.1312C>T | XP_024309504.1:p.Arg438Cys | |
| XM_024453737.1:c.1312C>T | XP_024309505.1:p.Arg438Cys | |
| XM_024453738.1:c.1312C>T | XP_024309506.1:p.Arg438Cys | |
| NM_000461.5:c.1312C>T | NP_000452.2:p.Arg438Cys | |
| NM_001128176.3:c.1312C>T | NP_001121648.1:p.Arg438Cys | |
| NM_001128177.2:c.1312C>T | NP_001121649.1:p.Arg438Cys | |
| NM_001252634.2:c.1312C>T | NP_001239563.1:p.Arg438Cys | |
| NM_001354708.2:c.1312C>T | NP_001341637.1:p.Arg438Cys | |
| NM_001354709.2:c.1312C>T | NP_001341638.1:p.Arg438Cys | |
| NM_001354710.2:c.1312C>T | NP_001341639.1:p.Arg438Cys | |
| NM_001354711.2:c.1312C>T | NP_001341640.1:p.Arg438Cys | |
| NM_001354712.2:c.1312C>T MANE Select | NP_001341641.1:p.Arg438Cys | |
| NM_001354713.2:c.1312C>T | NP_001341642.1:p.Arg438Cys | |
| NM_001354714.2:c.1219C>T | NP_001341643.1:p.Arg407Cys | |
| NM_001354715.2:c.1219C>T | NP_001341644.1:p.Arg407Cys | |
| NM_001374822.1:c.1312C>T | NP_001361751.1:p.Arg438Cys | |
| NM_001374823.1:c.1312C>T | NP_001361752.1:p.Arg438Cys | |
| NM_001374824.1:c.1312C>T | NP_001361753.1:p.Arg438Cys | |
| NM_001374825.1:c.1312C>T | NP_001361754.1:p.Arg438Cys | |
| NM_001374826.1:c.1312C>T | NP_001361755.1:p.Arg438Cys | |
| NM_001374827.1:c.1141C>T | NP_001361756.1:p.Arg381Cys |