Linked Data
ClinVar Variation Id:
1120948
ClinVar RCV Id:
RCV001451030
dbSNP Id:
rs2132283374
MyVariant Identifiers:
chr10:g.89720833A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961076A>G , CM000672.2:g.87961076A>G | GRCh38 |
| NC_000010.10:g.89720833A>G , CM000672.1:g.89720833A>G | GRCh37 |
| NC_000010.9:g.89710813A>G | NCBI36 |
| NG_007466.2:g.102638A>G , LRG_311:g.102638A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1077A>G | ENSP00000514759.2:p.Ala359= | |
| ENST00000710265.1:c.984A>G | ENSP00000518161.1:p.Ala328= | |
| ENST00000472832.3:c.984A>G | ENSP00000483066.2:p.Ala328= | |
| ENST00000688158.2:n.1719A>G | ||
| ENST00000688922.2:c.*814A>G | ENSP00000508742.2:n.*814A>G | |
| ENST00000700021.1:c.939A>G | ENSP00000514757.1:p.Ala313= | |
| ENST00000700022.1:c.*323A>G | ENSP00000514758.1:n.*323A>G | |
| ENST00000700023.1:n.2142A>G | ||
| ENST00000700024.1:n.2376A>G | ||
| ENST00000700025.1:n.1753A>G | ||
| ENST00000700026.1:n.621A>G | ||
| ENST00000706954.1:c.984A>G | ENSP00000516674.1:p.Ala328= | |
| ENST00000706955.1:c.*1019A>G | ENSP00000516675.1:n.*1019A>G | |
| ENST00000686459.1:c.*570A>G | ENSP00000508909.1:n.*570A>G | |
| ENST00000688158.1:c.*1095A>G | ENSP00000509254.1:n.*1095A>G | |
| ENST00000688308.1:c.984A>G | ENSP00000508752.1:p.Ala328= | |
| ENST00000688922.1:c.905A>G | ||
| ENST00000693560.1:c.1503A>G | ENSP00000509861.1:p.Ala501= | |
| ENST00000371953.8:c.984A>G MANE Select | ENSP00000361021.3:p.Ala328= | |
| ENST00000371953.7:c.984A>G | ENSP00000361021.3:p.Ala328= | |
| ENST00000472832.2:c.411A>G | ENSP00000483066.1:p.Ala137= | |
| NM_000314.5:c.984A>G | NP_000305.3:p.Ala328= | |
| NM_000314.6:c.984A>G | NP_000305.3:p.Ala328= | |
| NM_001304717.2:c.1503A>G | NP_001291646.2:p.Ala501= | |
| NM_001304718.1:c.393A>G | NP_001291647.1:p.Ala131= | |
| XM_006717926.2:c.939A>G | XP_006717989.1:p.Ala313= | |
| XM_011539981.1:c.984A>G | XP_011538283.1:p.Ala328= | |
| XM_011539982.1:c.888A>G | XP_011538284.1:p.Ala296= | |
| XR_945791.1:n.1554A>G | ||
| NM_000314.7:c.984A>G | NP_000305.3:p.Ala328= | |
| NM_001304717.5:c.1503A>G | NP_001291646.4:p.Ala501= | |
| NM_001304718.2:c.393A>G | NP_001291647.1:p.Ala131= | |
| NM_000314.8:c.984A>G MANE Select | NP_000305.3:p.Ala328= |