Linked Data
dbSNP Id:
rs747362058
ExAC:
4:187131669 C / T
gnomAD v2:
4-187131669-C-T
gnomAD v4:
4-186210515-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186210515C>T , CM000666.2:g.186210515C>T | GRCh38 |
| NC_000004.11:g.187131669C>T , CM000666.1:g.187131669C>T | GRCh37 |
| NC_000004.10:g.187368663C>T | NCBI36 |
| NG_007965.1:g.23996C>T | |
| NG_012095.2:g.6537C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1452C>T (CYP4V2) MANE Select | ENSP00000368079.4:p.Ile484= | |
| ENST00000378802.4:c.1452C>T (CYP4V2) | ENSP00000368079.4:p.Ile484= | |
| ENST00000502665.1:n.687C>T (CYP4V2) | ||
| ENST00000507209.5:n.6150C>T (CYP4V2) | ||
| ENST00000511608.5:c.201+1243C>T (KLKB1) | ||
| ENST00000513354.5:n.542C>T (CYP4V2) | ||
| NM_207352.3:c.1452C>T (CYP4V2) | NP_997235.3:p.Ile484= | |
| XM_005262935.2:c.1449C>T (CYP4V2) | XP_005262992.1:p.Ile483= | |
| XM_006714184.2:c.1056C>T (CYP4V2) | XP_006714247.1:p.Ile352= | |
| XM_005262935.4:c.1449C>T (CYP4V2) | XP_005262992.1:p.Ile483= | |
| XM_017008037.1:c.1056C>T (CYP4V2) | XP_016863526.1:p.Ile352= | |
| NM_207352.4:c.1452C>T (CYP4V2) MANE Select | NP_997235.3:p.Ile484= |