Linked Data
ClinVar Variation Id:
424005
dbSNP Id:
rs370837940
ExAC:
14:68220875 G / T
gnomAD v2:
14-68220875-G-T
gnomAD v4:
14-67754158-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67754158G>T , CM000676.2:g.67754158G>T | GRCh38 |
| NC_000014.8:g.68220875G>T , CM000676.1:g.68220875G>T | GRCh37 |
| NC_000014.7:g.67290628G>T | NCBI36 |
| NG_011836.1:g.67432C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.7041C>A MANE Select | ENSP00000251119.5:p.Cys2347Ter | |
| ENST00000676512.1:c.7059C>A | ENSP00000504552.1:p.Cys2353Ter | |
| ENST00000676620.1:c.6963C>A | ENSP00000504587.1:p.Cys2321Ter | |
| ENST00000678386.1:c.7086C>A | ENSP00000503677.1:p.Cys2362Ter | |
| ENST00000347230.8:c.7041C>A | ENSP00000251119.5:p.Cys2347Ter | |
| ENST00000394455.6:n.2304C>A | ||
| ENST00000554523.5:n.7796C>A | ||
| ENST00000554557.5:c.*5019C>A | ENSP00000450431.1:n.*5019C>A | |
| ENST00000554783.1:n.729C>A | ||
| ENST00000557306.1:c.579C>A | ENSP00000452142.1:p.Cys193Ter | |
| NM_015346.3:c.7041C>A | NP_056161.2:p.Cys2347Ter | |
| XM_006720093.2:c.7041C>A | XP_006720156.1:p.Cys2347Ter | |
| XM_011536606.1:c.5532C>A | XP_011534908.1:p.Cys1844Ter | |
| XM_011536607.1:c.4716C>A | XP_011534909.1:p.Cys1572Ter | |
| XM_011536608.1:c.4623C>A | XP_011534910.1:p.Cys1541Ter | |
| XM_017021124.1:c.7059C>A | XP_016876613.1:p.Cys2353Ter | |
| XM_017021125.1:c.7059C>A | XP_016876614.1:p.Cys2353Ter | |
| XM_017021126.1:c.5550C>A | XP_016876615.1:p.Cys1850Ter | |
| XM_017021127.2:c.4734C>A | XP_016876616.1:p.Cys1578Ter | |
| XM_017021128.1:c.4641C>A | XP_016876617.1:p.Cys1547Ter | |
| NM_015346.4:c.7041C>A MANE Select | NP_056161.2:p.Cys2347Ter |