Linked Data
ClinVar Variation Id:
954493
dbSNP Id:
rs140450256
ExAC:
4:187131790 C / T
gnomAD v2:
4-187131790-C-T
gnomAD v3:
4-186210636-C-T
gnomAD v4:
4-186210636-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186210636C>T , CM000666.2:g.186210636C>T | GRCh38 |
| NC_000004.11:g.187131790C>T , CM000666.1:g.187131790C>T | GRCh37 |
| NC_000004.10:g.187368784C>T | NCBI36 |
| NG_007965.1:g.24117C>T | |
| NG_012095.2:g.6658C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1573C>T (CYP4V2) MANE Select | ENSP00000368079.4:p.Arg525Cys | |
| ENST00000378802.4:c.1573C>T (CYP4V2) | ENSP00000368079.4:p.Arg525Cys | |
| ENST00000502665.1:n.808C>T (CYP4V2) | ||
| ENST00000507209.5:n.6271C>T (CYP4V2) | ||
| ENST00000511608.5:c.201+1364C>T (KLKB1) | ||
| ENST00000513354.5:n.663C>T (CYP4V2) | ||
| NM_207352.3:c.1573C>T (CYP4V2) | NP_997235.3:p.Arg525Cys | |
| XM_005262935.2:c.1570C>T (CYP4V2) | XP_005262992.1:p.Arg524Cys | |
| XM_006714184.2:c.1177C>T (CYP4V2) | XP_006714247.1:p.Arg393Cys | |
| XM_005262935.4:c.1570C>T (CYP4V2) | XP_005262992.1:p.Arg524Cys | |
| XM_017008037.1:c.1177C>T (CYP4V2) | XP_016863526.1:p.Arg393Cys | |
| NM_207352.4:c.1573C>T (CYP4V2) MANE Select | NP_997235.3:p.Arg525Cys |