Linked Data
ClinVar Variation Id:
1522486
ClinVar RCV Id:
RCV002046572
dbSNP Id:
rs750224316
ExAC:
4:187130330 G / A
gnomAD v2:
4-187130330-G-A
gnomAD v3:
4-186209176-G-A
gnomAD v4:
4-186209176-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209176G>A , CM000666.2:g.186209176G>A | GRCh38 |
| NC_000004.11:g.187130330G>A , CM000666.1:g.187130330G>A | GRCh37 |
| NC_000004.10:g.187367324G>A | NCBI36 |
| NG_007965.1:g.22657G>A | |
| NG_012095.2:g.5198G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1309G>A (CYP4V2) MANE Select | ENSP00000368079.4:p.Glu437Lys | |
| ENST00000378802.4:c.1309G>A (CYP4V2) | ENSP00000368079.4:p.Glu437Lys | |
| ENST00000502665.1:n.544G>A (CYP4V2) | ||
| ENST00000507209.5:n.6007G>A (CYP4V2) | ||
| ENST00000511608.5:c.105G>A (KLKB1) | ||
| ENST00000513354.5:n.399G>A (CYP4V2) | ||
| NM_207352.3:c.1309G>A (CYP4V2) | NP_997235.3:p.Glu437Lys | |
| XM_005262935.2:c.1306G>A (CYP4V2) | XP_005262992.1:p.Glu436Lys | |
| XM_006714184.2:c.913G>A (CYP4V2) | XP_006714247.1:p.Glu305Lys | |
| XM_005262935.4:c.1306G>A (CYP4V2) | XP_005262992.1:p.Glu436Lys | |
| XM_017008037.1:c.913G>A (CYP4V2) | XP_016863526.1:p.Glu305Lys | |
| NM_207352.4:c.1309G>A (CYP4V2) MANE Select | NP_997235.3:p.Glu437Lys |