Linked Data
ClinVar Variation Id:
299222
dbSNP Id:
rs771316696
ExAC:
10:13175538 G / A
gnomAD v2:
10-13175538-G-A
gnomAD v3:
10-13133538-G-A
gnomAD v4:
10-13133538-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13133538G>A , CM000672.2:g.13133538G>A | GRCh38 |
| NC_000010.10:g.13175538G>A , CM000672.1:g.13175538G>A | GRCh37 |
| NC_000010.9:g.13215544G>A | NCBI36 |
| NG_012876.1:g.38457G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378747.8:c.1569G>A MANE Select | ENSP00000368021.3:p.Ala523= | |
| ENST00000263036.9:c.1569G>A | ENSP00000263036.3:p.Ala523= | |
| ENST00000378747.7:c.1569G>A | ENSP00000368021.3:p.Ala523= | |
| ENST00000378748.7:c.1569G>A | ENSP00000368022.3:p.Ala523= | |
| ENST00000378752.7:c.1551G>A | ENSP00000368027.3:p.Ala517= | |
| ENST00000378757.6:c.1569G>A | ENSP00000368032.2:p.Ala523= | |
| ENST00000378764.6:c.1551G>A | ENSP00000368040.1:p.Ala517= | |
| ENST00000469025.1:n.425G>A | ||
| NM_001008211.1:c.1569G>A | NP_001008212.1:p.Ala523= | |
| NM_001008212.1:c.1569G>A | NP_001008213.1:p.Ala523= | |
| NM_001008213.1:c.1569G>A | NP_001008214.1:p.Ala523= | |
| NM_021980.4:c.1569G>A | NP_068815.2:p.Ala523= | |
| XM_005252336.2:c.1551G>A | XP_005252393.2:p.Ala517= | |
| XM_005252337.3:c.1551G>A | XP_005252394.2:p.Ala517= | |
| XM_005252338.2:c.1398G>A | XP_005252395.2:p.Ala466= | |
| NM_001008212.2:c.1569G>A MANE Select | NP_001008213.1:p.Ala523= |