Linked Data
ClinVar Variation Id:
313888
dbSNP Id:
rs193244014
ExAC:
14:68241828 G / C
gnomAD v2:
14-68241828-G-C
gnomAD v3:
14-67775111-G-C
gnomAD v4:
14-67775111-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67775111G>C , CM000676.2:g.67775111G>C | GRCh38 |
| NC_000014.8:g.68241828G>C , CM000676.1:g.68241828G>C | GRCh37 |
| NC_000014.7:g.67311581G>C | NCBI36 |
| NG_011836.1:g.46479C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.5225C>G MANE Select | ENSP00000251119.5:p.Ser1742Cys | |
| ENST00000676512.1:c.5243C>G | ENSP00000504552.1:p.Ser1748Cys | |
| ENST00000676620.1:c.5147C>G | ENSP00000504587.1:p.Ser1716Cys | |
| ENST00000678386.1:c.5270C>G | ENSP00000503677.1:p.Ser1757Cys | |
| ENST00000347230.8:c.5225C>G | ENSP00000251119.5:p.Ser1742Cys | |
| ENST00000554523.5:n.5362C>G | ||
| ENST00000554557.5:c.*3203C>G | ENSP00000450431.1:n.*3203C>G | |
| ENST00000555452.1:c.5225C>G | ENSP00000450603.1:p.Ser1742Cys | |
| NM_015346.3:c.5225C>G | NP_056161.2:p.Ser1742Cys | |
| XM_006720093.2:c.5225C>G | XP_006720156.1:p.Ser1742Cys | |
| XM_011536606.1:c.3716C>G | XP_011534908.1:p.Ser1239Cys | |
| XM_011536607.1:c.2900C>G | XP_011534909.1:p.Ser967Cys | |
| XM_011536608.1:c.2807C>G | XP_011534910.1:p.Ser936Cys | |
| XM_017021124.1:c.5243C>G | XP_016876613.1:p.Ser1748Cys | |
| XM_017021125.1:c.5243C>G | XP_016876614.1:p.Ser1748Cys | |
| XM_017021126.1:c.3734C>G | XP_016876615.1:p.Ser1245Cys | |
| XM_017021127.2:c.2918C>G | XP_016876616.1:p.Ser973Cys | |
| XM_017021128.1:c.2825C>G | XP_016876617.1:p.Ser942Cys | |
| NM_015346.4:c.5225C>G MANE Select | NP_056161.2:p.Ser1742Cys |