Linked Data
dbSNP Id:
rs780771539
ExAC:
4:187131665 G / T
gnomAD v2:
4-187131665-G-T
gnomAD v4:
4-186210511-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186210511G>T , CM000666.2:g.186210511G>T | GRCh38 |
| NC_000004.11:g.187131665G>T , CM000666.1:g.187131665G>T | GRCh37 |
| NC_000004.10:g.187368659G>T | NCBI36 |
| NG_007965.1:g.23992G>T | |
| NG_012095.2:g.6533G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1448G>T (CYP4V2) MANE Select | ENSP00000368079.4:p.Cys483Phe | |
| ENST00000378802.4:c.1448G>T (CYP4V2) | ENSP00000368079.4:p.Cys483Phe | |
| ENST00000502665.1:n.683G>T (CYP4V2) | ||
| ENST00000507209.5:n.6146G>T (CYP4V2) | ||
| ENST00000511608.5:c.201+1239G>T (KLKB1) | ||
| ENST00000513354.5:n.538G>T (CYP4V2) | ||
| NM_207352.3:c.1448G>T (CYP4V2) | NP_997235.3:p.Cys483Phe | |
| XM_005262935.2:c.1445G>T (CYP4V2) | XP_005262992.1:p.Cys482Phe | |
| XM_006714184.2:c.1052G>T (CYP4V2) | XP_006714247.1:p.Cys351Phe | |
| XM_005262935.4:c.1445G>T (CYP4V2) | XP_005262992.1:p.Cys482Phe | |
| XM_017008037.1:c.1052G>T (CYP4V2) | XP_016863526.1:p.Cys351Phe | |
| NM_207352.4:c.1448G>T (CYP4V2) MANE Select | NP_997235.3:p.Cys483Phe |