Linked Data
ClinVar Variation Id:
184413
dbSNP Id:
rs372876243
ExAC:
10:89692837 T / C
gnomAD v2:
10-89692837-T-C
gnomAD v3:
10-87933080-T-C
gnomAD v4:
10-87933080-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933080T>C , CM000672.2:g.87933080T>C | GRCh38 |
| NC_000010.10:g.89692837T>C , CM000672.1:g.89692837T>C | GRCh37 |
| NC_000010.9:g.89682817T>C | NCBI36 |
| NG_007466.2:g.74642T>C , LRG_311:g.74642T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.321T>C | ENSP00000514759.2:p.Asp107= | |
| ENST00000710265.1:c.321T>C | ENSP00000518161.1:p.Asp107= | |
| ENST00000472832.3:c.321T>C | ENSP00000483066.2:p.Asp107= | |
| ENST00000688158.2:n.1056T>C | ||
| ENST00000688922.2:c.*151T>C | ENSP00000508742.2:n.*151T>C | |
| ENST00000700021.1:c.276T>C | ENSP00000514757.1:p.Asp92= | |
| ENST00000700022.1:c.321T>C | ENSP00000514758.1:p.Asp107= | |
| ENST00000700029.1:c.155T>C | ||
| ENST00000706954.1:c.321T>C | ENSP00000516674.1:p.Asp107= | |
| ENST00000706955.1:c.*356T>C | ENSP00000516675.1:n.*356T>C | |
| ENST00000686459.1:c.321T>C | ENSP00000508909.1:p.Asp107= | |
| ENST00000688158.1:c.*432T>C | ENSP00000509254.1:n.*432T>C | |
| ENST00000688308.1:c.321T>C | ENSP00000508752.1:p.Asp107= | |
| ENST00000688922.1:c.242T>C | ||
| ENST00000693560.1:c.840T>C | ENSP00000509861.1:p.Asp280= | |
| ENST00000371953.8:c.321T>C MANE Select | ENSP00000361021.3:p.Asp107= | |
| ENST00000371953.7:c.321T>C | ENSP00000361021.3:p.Asp107= | |
| ENST00000498703.1:n.147T>C | ||
| ENST00000610634.1:c.219T>C | ENSP00000477517.1:p.Asp73= | |
| NM_000314.5:c.321T>C | NP_000305.3:p.Asp107= | |
| NM_000314.6:c.321T>C | NP_000305.3:p.Asp107= | |
| NM_001304717.2:c.840T>C | NP_001291646.2:p.Asp280= | |
| NM_001304718.1:c.-430T>C | NP_001291647.1:n.-430T>C | |
| XM_006717926.2:c.276T>C | XP_006717989.1:p.Asp92= | |
| XM_011539981.1:c.321T>C | XP_011538283.1:p.Asp107= | |
| XM_011539982.1:c.225T>C | XP_011538284.1:p.Asp75= | |
| XR_945789.1:n.1033T>C | ||
| XR_945790.1:n.1033T>C | ||
| XR_945791.1:n.1033T>C | ||
| NM_000314.7:c.321T>C | NP_000305.3:p.Asp107= | |
| NM_001304717.5:c.840T>C | NP_001291646.4:p.Asp280= | |
| NM_001304718.2:c.-430T>C | NP_001291647.1:n.-430T>C | |
| NM_000314.8:c.321T>C MANE Select | NP_000305.3:p.Asp107= |