Linked Data
dbSNP Id:
rs770843894
ExAC:
4:187131704 G / A
gnomAD v2:
4-187131704-G-A
gnomAD v4:
4-186210550-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186210550G>A , CM000666.2:g.186210550G>A | GRCh38 |
| NC_000004.11:g.187131704G>A , CM000666.1:g.187131704G>A | GRCh37 |
| NC_000004.10:g.187368698G>A | NCBI36 |
| NG_007965.1:g.24031G>A | |
| NG_012095.2:g.6572G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1487G>A (CYP4V2) MANE Select | ENSP00000368079.4:p.Arg496Lys | |
| ENST00000378802.4:c.1487G>A (CYP4V2) | ENSP00000368079.4:p.Arg496Lys | |
| ENST00000502665.1:n.722G>A (CYP4V2) | ||
| ENST00000507209.5:n.6185G>A (CYP4V2) | ||
| ENST00000511608.5:c.201+1278G>A (KLKB1) | ||
| ENST00000513354.5:n.577G>A (CYP4V2) | ||
| NM_207352.3:c.1487G>A (CYP4V2) | NP_997235.3:p.Arg496Lys | |
| XM_005262935.2:c.1484G>A (CYP4V2) | XP_005262992.1:p.Arg495Lys | |
| XM_006714184.2:c.1091G>A (CYP4V2) | XP_006714247.1:p.Arg364Lys | |
| XM_005262935.4:c.1484G>A (CYP4V2) | XP_005262992.1:p.Arg495Lys | |
| XM_017008037.1:c.1091G>A (CYP4V2) | XP_016863526.1:p.Arg364Lys | |
| NM_207352.4:c.1487G>A (CYP4V2) MANE Select | NP_997235.3:p.Arg496Lys |