Linked Data
dbSNP Id:
rs945671684
gnomAD v2:
10-89726508-A-T
gnomAD v3:
10-87966751-A-T
gnomAD v4:
10-87966751-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87966751A>T , CM000672.2:g.87966751A>T | GRCh38 |
| NC_000010.10:g.89726508A>T , CM000672.1:g.89726508A>T | GRCh37 |
| NC_000010.9:g.89716488A>T | NCBI36 |
| NG_007466.2:g.108313A>T , LRG_311:g.108313A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.*1279A>T | ENSP00000514759.2:n.*1279A>T | |
| ENST00000710265.1:c.*1520A>T | ENSP00000518161.1:n.*1520A>T | |
| ENST00000688158.2:n.3226A>T | ||
| ENST00000688922.2:c.*2321A>T | ENSP00000508742.2:n.*2321A>T | |
| ENST00000700021.1:c.*1279A>T | ENSP00000514757.1:n.*1279A>T | |
| ENST00000700022.1:c.*1830A>T | ENSP00000514758.1:n.*1830A>T | |
| ENST00000700024.1:n.3883A>T | ||
| ENST00000706954.1:c.*1279A>T | ENSP00000516674.1:n.*1279A>T | |
| ENST00000706955.1:c.*2526A>T | ENSP00000516675.1:n.*2526A>T | |
| ENST00000688158.1:c.*2602A>T | ENSP00000509254.1:n.*2602A>T | |
| ENST00000688308.1:c.*1279A>T | ENSP00000508752.1:n.*1279A>T | |
| ENST00000688922.1:c.2412A>T | ||
| ENST00000693560.1:c.*1279A>T | ENSP00000509861.1:n.*1279A>T | |
| ENST00000371953.8:c.*1279A>T MANE Select | ENSP00000361021.3:n.*1279A>T | |
| ENST00000371953.7:c.*1279A>T | ENSP00000361021.3:n.*1279A>T | |
| NM_000314.5:c.*1279A>T | NP_000305.3:n.*1279A>T | |
| NM_000314.6:c.*1279A>T | NP_000305.3:n.*1279A>T | |
| NM_001304717.2:c.*1279A>T | NP_001291646.2:n.*1279A>T | |
| NM_001304718.1:c.*1279A>T | NP_001291647.1:n.*1279A>T | |
| XM_006717926.2:c.*1279A>T | XP_006717989.1:n.*1279A>T | |
| XM_011539982.1:c.*1279A>T | XP_011538284.1:n.*1279A>T | |
| XR_945791.1:n.3061A>T | ||
| NM_000314.7:c.*1279A>T | NP_000305.3:n.*1279A>T | |
| NM_001304717.5:c.*1279A>T | NP_001291646.4:n.*1279A>T | |
| NM_001304718.2:c.*1279A>T | NP_001291647.1:n.*1279A>T | |
| NM_000314.8:c.*1279A>T MANE Select | NP_000305.3:n.*1279A>T |