Linked Data
ClinVar Variation Id:
703420
dbSNP Id:
rs523747
gnomAD v3:
10-13124076-G-A
gnomAD v4:
10-13124076-G-A
MyVariant Identifiers:
chr10:g.13124076G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13124076G>A , CM000672.2:g.13124076G>A | GRCh38 |
| NG_012876.1:g.28995G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378747.8:c.964G>A MANE Select | ENSP00000368021.3:p.Glu322Lys | |
| ENST00000263036.9:c.964G>A | ENSP00000263036.3:p.Glu322Lys | |
| ENST00000378747.7:c.964G>A | ENSP00000368021.3:p.Glu322Lys | |
| ENST00000378748.7:c.964G>A | ENSP00000368022.3:p.Glu322Lys | |
| ENST00000378752.7:c.946G>A | ENSP00000368027.3:p.Glu316Lys | |
| ENST00000378757.6:c.964G>A | ENSP00000368032.2:p.Glu322Lys | |
| ENST00000378764.6:c.946G>A | ENSP00000368040.1:p.Glu316Lys | |
| NM_001008211.1:c.964G>A | NP_001008212.1:p.Glu322Lys | |
| NM_001008212.1:c.964G>A | NP_001008213.1:p.Glu322Lys | |
| NM_001008213.1:c.964G>A | NP_001008214.1:p.Glu322Lys | |
| NM_021980.4:c.964G>A | NP_068815.2:p.Glu322Lys | |
| XM_005252336.2:c.946G>A | XP_005252393.2:p.Glu316Lys | |
| XM_005252337.3:c.946G>A | XP_005252394.2:p.Glu316Lys | |
| XM_005252338.2:c.793G>A | XP_005252395.2:p.Glu265Lys | |
| NM_001008212.2:c.964G>A MANE Select | NP_001008213.1:p.Glu322Lys |