Linked Data
ClinVar Variation Id:
313937
dbSNP Id:
rs17192296
gnomAD v2:
14-68282750-T-A
gnomAD v3:
14-67816033-T-A
gnomAD v4:
14-67816033-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67816033T>A , CM000676.2:g.67816033T>A | GRCh38 |
| NC_000014.8:g.68282750T>A , CM000676.1:g.68282750T>A | GRCh37 |
| NC_000014.7:g.67352503T>A | NCBI36 |
| NG_011836.1:g.5557A>T | |
| NG_023267.1:g.1242T>A | |
| NG_023267.2:g.1255T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.-70A>T MANE Select | ENSP00000251119.5:n.-70A>T | |
| ENST00000676512.1:c.-70A>T | ENSP00000504552.1:n.-70A>T | |
| ENST00000676620.1:c.-70A>T | ENSP00000504587.1:n.-70A>T | |
| ENST00000677026.1:c.-70A>T | ENSP00000503710.1:n.-70A>T | |
| ENST00000678382.1:c.-70A>T | ENSP00000504130.1:n.-70A>T | |
| ENST00000678386.1:c.-70A>T | ENSP00000503677.1:n.-70A>T | |
| ENST00000347230.8:c.-70A>T | ENSP00000251119.5:n.-70A>T | |
| ENST00000553399.1:n.71A>T | ||
| ENST00000554523.5:n.68A>T | ||
| ENST00000554557.5:c.-70A>T | ENSP00000450431.1:n.-70A>T | |
| ENST00000555452.1:c.-70A>T | ENSP00000450603.1:n.-70A>T | |
| ENST00000557366.5:n.66A>T | ||
| ENST00000557407.1:n.66A>T | ||
| NM_015346.3:c.-70A>T | NP_056161.2:n.-70A>T | |
| XM_006720093.2:c.-70A>T | XP_006720156.1:n.-70A>T | |
| XM_011536606.1:c.-1490A>T | XP_011534908.1:n.-1490A>T | |
| XM_011536609.1:c.-70A>T | XP_011534911.1:n.-70A>T | |
| XM_011536609.2:c.-70A>T | XP_011534911.1:n.-70A>T | |
| XM_017021124.1:c.-70A>T | XP_016876613.1:n.-70A>T | |
| XM_017021125.1:c.-70A>T | XP_016876614.1:n.-70A>T | |
| XM_017021126.1:c.-1490A>T | XP_016876615.1:n.-1490A>T | |
| NM_015346.4:c.-70A>T MANE Select | NP_056161.2:n.-70A>T |