Linked Data
ClinVar Variation Id:
853684
ClinVar RCV Id:
RCV001058545
dbSNP Id:
rs558238506
ExAC:
4:187130333 G / A
gnomAD v2:
4-187130333-G-A
gnomAD v3:
4-186209179-G-A
gnomAD v4:
4-186209179-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209179G>A , CM000666.2:g.186209179G>A | GRCh38 |
| NC_000004.11:g.187130333G>A , CM000666.1:g.187130333G>A | GRCh37 |
| NC_000004.10:g.187367327G>A | NCBI36 |
| NG_007965.1:g.22660G>A | |
| NG_012095.2:g.5201G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1312G>A (CYP4V2) MANE Select | ENSP00000368079.4:p.Glu438Lys | |
| ENST00000378802.4:c.1312G>A (CYP4V2) | ENSP00000368079.4:p.Glu438Lys | |
| ENST00000502665.1:n.547G>A (CYP4V2) | ||
| ENST00000507209.5:n.6010G>A (CYP4V2) | ||
| ENST00000511608.5:c.108G>A (KLKB1) | ||
| ENST00000513354.5:n.402G>A (CYP4V2) | ||
| NM_207352.3:c.1312G>A (CYP4V2) | NP_997235.3:p.Glu438Lys | |
| XM_005262935.2:c.1309G>A (CYP4V2) | XP_005262992.1:p.Glu437Lys | |
| XM_006714184.2:c.916G>A (CYP4V2) | XP_006714247.1:p.Glu306Lys | |
| XM_005262935.4:c.1309G>A (CYP4V2) | XP_005262992.1:p.Glu437Lys | |
| XM_017008037.1:c.916G>A (CYP4V2) | XP_016863526.1:p.Glu306Lys | |
| NM_207352.4:c.1312G>A (CYP4V2) MANE Select | NP_997235.3:p.Glu438Lys |