Linked Data
ClinVar Variation Id:
266059
ClinVar RCV Id:
RCV000492199
dbSNP Id:
rs895824243
gnomAD v2:
10-13152387-A-C
gnomAD v3:
10-13110387-A-C
gnomAD v4:
10-13110387-A-C
PubMed:
PMID:28089114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13110387A>C , CM000672.2:g.13110387A>C | GRCh38 |
| NC_000010.10:g.13152387A>C , CM000672.1:g.13152387A>C | GRCh37 |
| NC_000010.9:g.13192393A>C | NCBI36 |
| NG_012876.1:g.15306A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378747.8:c.280A>C MANE Select | ENSP00000368021.3:p.Lys94Gln | |
| ENST00000263036.9:c.280A>C | ENSP00000263036.3:p.Lys94Gln | |
| ENST00000378747.7:c.280A>C | ENSP00000368021.3:p.Lys94Gln | |
| ENST00000378748.7:c.280A>C | ENSP00000368022.3:p.Lys94Gln | |
| ENST00000378752.7:c.280A>C | ENSP00000368027.3:p.Lys94Gln | |
| ENST00000378757.6:c.280A>C | ENSP00000368032.2:p.Lys94Gln | |
| ENST00000378764.6:c.280A>C | ENSP00000368040.1:p.Lys94Gln | |
| ENST00000430081.5:c.*185A>C | ENSP00000414747.2:n.*185A>C | |
| ENST00000482140.5:c.166+1099A>C | ENSP00000484961.1:n.166+1099A>C | |
| NM_001008211.1:c.280A>C | NP_001008212.1:p.Lys94Gln | |
| NM_001008212.1:c.280A>C | NP_001008213.1:p.Lys94Gln | |
| NM_001008213.1:c.280A>C | NP_001008214.1:p.Lys94Gln | |
| NM_021980.4:c.280A>C | NP_068815.2:p.Lys94Gln | |
| XM_005252336.2:c.280A>C | XP_005252393.2:p.Lys94Gln | |
| XM_005252337.3:c.280A>C | XP_005252394.2:p.Lys94Gln | |
| XM_005252338.2:c.109A>C | XP_005252395.2:p.Lys37Gln | |
| NM_001008212.2:c.280A>C MANE Select | NP_001008213.1:p.Lys94Gln |