Linked Data
ClinVar Variation Id:
760644
dbSNP Id:
rs1589663555
MyVariant Identifiers:
chr10:g.89717740A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957983A>G , CM000672.2:g.87957983A>G | GRCh38 |
| NC_000010.10:g.89717740A>G , CM000672.1:g.89717740A>G | GRCh37 |
| NC_000010.9:g.89707720A>G | NCBI36 |
| NG_007466.2:g.99545A>G , LRG_311:g.99545A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.765A>G | ENSP00000514759.2:p.Val255= | |
| ENST00000710265.1:c.765A>G | ENSP00000518161.1:p.Val255= | |
| ENST00000472832.3:c.765A>G | ENSP00000483066.2:p.Val255= | |
| ENST00000688158.2:n.1500A>G | ||
| ENST00000688922.2:c.*595A>G | ENSP00000508742.2:n.*595A>G | |
| ENST00000700021.1:c.720A>G | ENSP00000514757.1:p.Val240= | |
| ENST00000700022.1:c.*104A>G | ENSP00000514758.1:n.*104A>G | |
| ENST00000700023.1:n.1923A>G | ||
| ENST00000700024.1:n.2157A>G | ||
| ENST00000700025.1:n.1534A>G | ||
| ENST00000700026.1:n.402A>G | ||
| ENST00000700029.1:c.599A>G | ||
| ENST00000706954.1:c.765A>G | ENSP00000516674.1:p.Val255= | |
| ENST00000706955.1:c.*800A>G | ENSP00000516675.1:n.*800A>G | |
| ENST00000686459.1:c.*351A>G | ENSP00000508909.1:n.*351A>G | |
| ENST00000688158.1:c.*876A>G | ENSP00000509254.1:n.*876A>G | |
| ENST00000688308.1:c.765A>G | ENSP00000508752.1:p.Val255= | |
| ENST00000688922.1:c.686A>G | ||
| ENST00000693560.1:c.1284A>G | ENSP00000509861.1:p.Val428= | |
| ENST00000371953.8:c.765A>G MANE Select | ENSP00000361021.3:p.Val255= | |
| ENST00000371953.7:c.765A>G | ENSP00000361021.3:p.Val255= | |
| ENST00000472832.2:c.192A>G | ENSP00000483066.1:p.Val64= | |
| NM_000314.5:c.765A>G | NP_000305.3:p.Val255= | |
| NM_000314.6:c.765A>G | NP_000305.3:p.Val255= | |
| NM_001304717.2:c.1284A>G | NP_001291646.2:p.Val428= | |
| NM_001304718.1:c.174A>G | NP_001291647.1:p.Val58= | |
| XM_006717926.2:c.720A>G | XP_006717989.1:p.Val240= | |
| XM_011539981.1:c.765A>G | XP_011538283.1:p.Val255= | |
| XM_011539982.1:c.669A>G | XP_011538284.1:p.Val223= | |
| XR_945791.1:n.1335A>G | ||
| NM_000314.7:c.765A>G | NP_000305.3:p.Val255= | |
| NM_001304717.5:c.1284A>G | NP_001291646.4:p.Val428= | |
| NM_001304718.2:c.174A>G | NP_001291647.1:p.Val58= | |
| NM_000314.8:c.765A>G MANE Select | NP_000305.3:p.Val255= |