Linked Data
ClinVar Variation Id:
240766
dbSNP Id:
rs201486613
ExAC:
1:15772126 A / C
gnomAD v2:
1-15772126-A-C
gnomAD v3:
1-15445631-A-C
gnomAD v4:
1-15445631-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445631A>C , CM000663.2:g.15445631A>C | GRCh38 |
| NC_000001.10:g.15772126A>C , CM000663.1:g.15772126A>C | GRCh37 |
| NC_000001.9:g.15644713A>C | NCBI36 |
| NG_009253.1:g.12189A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.674A>C MANE Select | ENSP00000365116.4:p.Glu225Ala | |
| ENST00000375943.6:c.*128A>C | ENSP00000365110.2:n.*128A>C | |
| ENST00000375949.4:c.674A>C | ENSP00000365116.4:p.Glu225Ala | |
| ENST00000483406.1:n.438A>C | ||
| NM_007272.2:c.674A>C | NP_009203.2:p.Glu225Ala | |
| XM_011540550.1:c.528A>C | XP_011538852.1:p.Gly176= | |
| NM_007272.3:c.674A>C MANE Select | NP_009203.2:p.Glu225Ala |