Linked Data
ClinVar Variation Id:
2723719
ClinVar RCV Id:
RCV003561455
dbSNP Id:
rs1233939636
gnomAD v3:
14-91877681-G-A
gnomAD v4:
14-91877681-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91877681G>A , CM000676.2:g.91877681G>A | GRCh38 |
| NC_000014.8:g.92344025G>A , CM000676.1:g.92344025G>A | GRCh37 |
| NC_000014.7:g.91413778G>A | NCBI36 |
| NG_008254.1:g.75022C>T , LRG_364:g.75022C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*957C>T | ENSP00000451002.1:n.*957C>T | |
| ENST00000557570.2:c.823C>T | ENSP00000450787.2:p.Arg275Cys | |
| ENST00000706675.1:n.806C>T | ||
| ENST00000706676.1:c.1165C>T | ENSP00000516492.1:p.Arg389Cys | |
| ENST00000706677.1:c.991C>T | ENSP00000516493.1:p.Arg331Cys | |
| ENST00000706678.1:n.911C>T | ||
| ENST00000706679.1:c.823C>T | ENSP00000516494.1:p.Arg275Cys | |
| ENST00000706680.1:c.*834C>T | ENSP00000516495.1:n.*834C>T | |
| ENST00000706681.1:c.*730C>T | ENSP00000516496.1:n.*730C>T | |
| ENST00000342058.9:c.991C>T MANE Select | ENSP00000345008.4:p.Arg331Cys | |
| ENST00000267620.14:c.1114C>T | ENSP00000267620.10:p.Arg372Cys | |
| ENST00000342058.8:c.991C>T | ENSP00000345008.4:p.Arg331Cys | |
| ENST00000554121.2:n.117C>T | ||
| ENST00000556154.5:c.1006C>T | ENSP00000451982.1:p.Arg336Cys | |
| NM_006329.3:c.991C>T , LRG_364t1:c.991C>T | NP_006320.2:p.Arg331Cys | |
| XM_005267267.3:c.1042C>T | XP_005267324.1:p.Arg348Cys | |
| XM_011536356.1:c.1042C>T | XP_011534658.1:p.Arg348Cys | |
| XM_011536357.1:c.991C>T | XP_011534659.1:p.Arg331Cys | |
| XM_011536358.1:c.823C>T | XP_011534660.1:p.Arg275Cys | |
| XM_011536357.2:c.991C>T | XP_011534659.1:p.Arg331Cys | |
| XM_011536358.2:c.823C>T | XP_011534660.1:p.Arg275Cys | |
| XM_017020929.2:c.823C>T | XP_016876418.1:p.Arg275Cys | |
| NM_001384158.1:c.1114C>T | NP_001371087.1:p.Arg372Cys | |
| NM_001384159.1:c.1042C>T | NP_001371088.1:p.Arg348Cys | |
| NM_001384160.1:c.991C>T | NP_001371089.1:p.Arg331Cys | |
| NM_001384161.1:c.823C>T | NP_001371090.1:p.Arg275Cys | |
| NM_001384162.1:c.823C>T | NP_001371091.1:p.Arg275Cys | |
| NM_006329.4:c.991C>T MANE Select | NP_006320.2:p.Arg331Cys |