Linked Data
ClinVar Variation Id:
1755292
ClinVar RCV Id:
RCV002369263
dbSNP Id:
rs1158560990
gnomAD v2:
1-15772127-G-A
gnomAD v4:
1-15445632-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445632G>A , CM000663.2:g.15445632G>A | GRCh38 |
| NC_000001.10:g.15772127G>A , CM000663.1:g.15772127G>A | GRCh37 |
| NC_000001.9:g.15644714G>A | NCBI36 |
| NG_009253.1:g.12190G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.675G>A MANE Select | ENSP00000365116.4:p.Glu225= | |
| ENST00000375943.6:c.*129G>A | ENSP00000365110.2:n.*129G>A | |
| ENST00000375949.4:c.675G>A | ENSP00000365116.4:p.Glu225= | |
| ENST00000483406.1:n.439G>A | ||
| NM_007272.2:c.675G>A | NP_009203.2:p.Glu225= | |
| XM_011540550.1:c.529G>A | XP_011538852.1:p.Glu177Lys | |
| NM_007272.3:c.675G>A MANE Select | NP_009203.2:p.Glu225= |