Linked Data
ClinVar Variation Id:
166978
ClinVar RCV Id:
RCV000153133
dbSNP Id:
rs144109267
ExAC:
4:187130414 A / G
gnomAD v2:
4-187130414-A-G
gnomAD v3:
4-186209260-A-G
gnomAD v4:
4-186209260-A-G
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209260A>G , CM000666.2:g.186209260A>G | GRCh38 |
| NC_000004.11:g.187130414A>G , CM000666.1:g.187130414A>G | GRCh37 |
| NC_000004.10:g.187367408A>G | NCBI36 |
| NG_007965.1:g.22741A>G | |
| NG_012095.2:g.5282A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1393A>G (CYP4V2) MANE Select | ENSP00000368079.4:p.Arg465Gly | |
| ENST00000378802.4:c.1393A>G (CYP4V2) | ENSP00000368079.4:p.Arg465Gly | |
| ENST00000502665.1:n.628A>G (CYP4V2) | ||
| ENST00000507209.5:n.6091A>G (CYP4V2) | ||
| ENST00000511608.5:c.189A>G (KLKB1) | ||
| ENST00000513354.5:n.483A>G (CYP4V2) | ||
| NM_207352.3:c.1393A>G (CYP4V2) | NP_997235.3:p.Arg465Gly | |
| XM_005262935.2:c.1390A>G (CYP4V2) | XP_005262992.1:p.Arg464Gly | |
| XM_006714184.2:c.997A>G (CYP4V2) | XP_006714247.1:p.Arg333Gly | |
| XM_005262935.4:c.1390A>G (CYP4V2) | XP_005262992.1:p.Arg464Gly | |
| XM_017008037.1:c.997A>G (CYP4V2) | XP_016863526.1:p.Arg333Gly | |
| NM_207352.4:c.1393A>G (CYP4V2) MANE Select | NP_997235.3:p.Arg465Gly |