Linked Data
ClinVar Variation Id:
230178
ClinVar RCV Id:
RCV000215293
dbSNP Id:
rs876658433
gnomAD v4:
5-132575786-G-A
COSMIC:
COSM3702696
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132575786G>A , CM000667.2:g.132575786G>A | GRCh38 |
| NC_000005.9:g.131911478G>A , CM000667.1:g.131911478G>A | GRCh37 |
| NC_000005.8:g.131939377G>A | NCBI36 |
| NG_021151.1:g.23863G>A | |
| NG_021151.2:g.23810G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.223G>A MANE Select | ENSP00000368100.4:p.Glu75Lys | |
| ENST00000638452.2:c.-75G>A | ENSP00000492349.2:n.-75G>A | |
| ENST00000638504.1:n.300G>A | ||
| ENST00000638568.2:c.-75G>A | ENSP00000491158.2:n.-75G>A | |
| ENST00000639899.1:n.383G>A | ||
| ENST00000640655.2:c.-75G>A | ENSP00000491596.2:n.-75G>A | |
| ENST00000651160.1:c.223G>A | ENSP00000498829.1:p.Glu75Lys | |
| ENST00000651541.1:c.-75G>A | ENSP00000498795.1:n.-75G>A | |
| ENST00000651658.1:n.291G>A | ||
| ENST00000651723.1:c.*371G>A | ENSP00000498237.1:n.*371G>A | |
| ENST00000652016.1:c.223G>A | ENSP00000498267.1:p.Glu75Lys | |
| ENST00000652485.1:c.223G>A | ENSP00000498973.1:p.Glu75Lys | |
| ENST00000378823.7:c.223G>A | ENSP00000368100.4:p.Glu75Lys | |
| ENST00000416135.5:c.-75G>A | ENSP00000389515.1:n.-75G>A | |
| ENST00000423956.5:c.223G>A | ENSP00000390971.1:p.Glu75Lys | |
| ENST00000453394.5:c.223G>A | ENSP00000400049.1:p.Glu75Lys | |
| ENST00000533482.5:c.223G>A | ENSP00000431225.1:p.Glu75Lys | |
| NM_005732.3:c.223G>A | NP_005723.2:p.Glu75Lys | |
| NM_005732.4:c.223G>A MANE Select | NP_005723.2:p.Glu75Lys |