Linked Data
ClinVar Variation Id:
413793
dbSNP Id:
rs139364887
ExAC:
14:68220866 A / G
gnomAD v2:
14-68220866-A-G
gnomAD v3:
14-67754149-A-G
gnomAD v4:
14-67754149-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67754149A>G , CM000676.2:g.67754149A>G | GRCh38 |
| NC_000014.8:g.68220866A>G , CM000676.1:g.68220866A>G | GRCh37 |
| NC_000014.7:g.67290619A>G | NCBI36 |
| NG_011836.1:g.67441T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.7050T>C MANE Select | ENSP00000251119.5:p.Ala2350= | |
| ENST00000676512.1:c.7068T>C | ENSP00000504552.1:p.Ala2356= | |
| ENST00000676620.1:c.6972T>C | ENSP00000504587.1:p.Ala2324= | |
| ENST00000678386.1:c.7095T>C | ENSP00000503677.1:p.Ala2365= | |
| ENST00000347230.8:c.7050T>C | ENSP00000251119.5:p.Ala2350= | |
| ENST00000394455.6:n.2313T>C | ||
| ENST00000554523.5:n.7805T>C | ||
| ENST00000554557.5:c.*5028T>C | ENSP00000450431.1:n.*5028T>C | |
| ENST00000554783.1:n.738T>C | ||
| ENST00000557306.1:c.588T>C | ENSP00000452142.1:p.Ala196= | |
| NM_015346.3:c.7050T>C | NP_056161.2:p.Ala2350= | |
| XM_006720093.2:c.7050T>C | XP_006720156.1:p.Ala2350= | |
| XM_011536606.1:c.5541T>C | XP_011534908.1:p.Ala1847= | |
| XM_011536607.1:c.4725T>C | XP_011534909.1:p.Ala1575= | |
| XM_011536608.1:c.4632T>C | XP_011534910.1:p.Ala1544= | |
| XM_017021124.1:c.7068T>C | XP_016876613.1:p.Ala2356= | |
| XM_017021125.1:c.7068T>C | XP_016876614.1:p.Ala2356= | |
| XM_017021126.1:c.5559T>C | XP_016876615.1:p.Ala1853= | |
| XM_017021127.2:c.4743T>C | XP_016876616.1:p.Ala1581= | |
| XM_017021128.1:c.4650T>C | XP_016876617.1:p.Ala1550= | |
| NM_015346.4:c.7050T>C MANE Select | NP_056161.2:p.Ala2350= |