Linked Data
ClinVar Variation Id:
1606433
dbSNP Id:
rs1878700909
gnomAD v3:
13-110192834-T-C
gnomAD v4:
13-110192834-T-C
MyVariant Identifiers:
chr13:g.110845181T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110192834T>C , CM000675.2:g.110192834T>C | GRCh38 |
| NC_000013.10:g.110845181T>C , CM000675.1:g.110845181T>C | GRCh37 |
| NC_000013.9:g.109643182T>C | NCBI36 |
| NG_011544.2:g.119316A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.1461A>G MANE Select | ENSP00000364979.4:p.Glu487= | |
| ENST00000543140.6:c.1461A>G | ENSP00000443348.1:p.Glu487= | |
| ENST00000649738.1:n.1591A>G | ||
| ENST00000375820.8:c.1461A>G | ENSP00000364979.4:p.Glu487= | |
| ENST00000543140.5:c.1461A>G | ENSP00000443348.1:p.Glu487= | |
| NM_001303110.1:c.1461A>G | NP_001290039.1:p.Glu487= | |
| NM_001845.5:c.1461A>G | NP_001836.3:p.Glu487= | |
| XM_011521048.1:c.1269A>G | XP_011519350.1:p.Glu423= | |
| XM_011521048.2:c.1269A>G | XP_011519350.1:p.Glu423= | |
| NM_001845.6:c.1461A>G MANE Select | NP_001836.3:p.Glu487= | |
| NM_001303110.2:c.1461A>G | NP_001290039.1:p.Glu487= |