Linked Data
ClinVar Variation Id:
1088256
ClinVar RCV Id:
RCV001406666
dbSNP Id:
rs1860620187
MyVariant Identifiers:
chr10:g.89720701G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960944G>A , CM000672.2:g.87960944G>A | GRCh38 |
| NC_000010.10:g.89720701G>A , CM000672.1:g.89720701G>A | GRCh37 |
| NC_000010.9:g.89710681G>A | NCBI36 |
| NG_007466.2:g.102506G>A , LRG_311:g.102506G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.945G>A | ENSP00000514759.2:p.Glu315= | |
| ENST00000710265.1:c.852G>A | ENSP00000518161.1:p.Glu284= | |
| ENST00000472832.3:c.852G>A | ENSP00000483066.2:p.Glu284= | |
| ENST00000688158.2:n.1587G>A | ||
| ENST00000688922.2:c.*682G>A | ENSP00000508742.2:n.*682G>A | |
| ENST00000700021.1:c.807G>A | ENSP00000514757.1:p.Glu269= | |
| ENST00000700022.1:c.*191G>A | ENSP00000514758.1:n.*191G>A | |
| ENST00000700023.1:n.2010G>A | ||
| ENST00000700024.1:n.2244G>A | ||
| ENST00000700025.1:n.1621G>A | ||
| ENST00000700026.1:n.489G>A | ||
| ENST00000700029.1:c.779G>A | ||
| ENST00000706954.1:c.852G>A | ENSP00000516674.1:p.Glu284= | |
| ENST00000706955.1:c.*887G>A | ENSP00000516675.1:n.*887G>A | |
| ENST00000686459.1:c.*438G>A | ENSP00000508909.1:n.*438G>A | |
| ENST00000688158.1:c.*963G>A | ENSP00000509254.1:n.*963G>A | |
| ENST00000688308.1:c.852G>A | ENSP00000508752.1:p.Glu284= | |
| ENST00000688922.1:c.773G>A | ||
| ENST00000693560.1:c.1371G>A | ENSP00000509861.1:p.Glu457= | |
| ENST00000371953.8:c.852G>A MANE Select | ENSP00000361021.3:p.Glu284= | |
| ENST00000371953.7:c.852G>A | ENSP00000361021.3:p.Glu284= | |
| ENST00000472832.2:c.279G>A | ENSP00000483066.1:p.Glu93= | |
| NM_000314.5:c.852G>A | NP_000305.3:p.Glu284= | |
| NM_000314.6:c.852G>A | NP_000305.3:p.Glu284= | |
| NM_001304717.2:c.1371G>A | NP_001291646.2:p.Glu457= | |
| NM_001304718.1:c.261G>A | NP_001291647.1:p.Glu87= | |
| XM_006717926.2:c.807G>A | XP_006717989.1:p.Glu269= | |
| XM_011539981.1:c.852G>A | XP_011538283.1:p.Glu284= | |
| XM_011539982.1:c.756G>A | XP_011538284.1:p.Glu252= | |
| XR_945791.1:n.1422G>A | ||
| NM_000314.7:c.852G>A | NP_000305.3:p.Glu284= | |
| NM_001304717.5:c.1371G>A | NP_001291646.4:p.Glu457= | |
| NM_001304718.2:c.261G>A | NP_001291647.1:p.Glu87= | |
| NM_000314.8:c.852G>A MANE Select | NP_000305.3:p.Glu284= |