Linked Data
ClinVar Variation Id:
2067799
ClinVar RCV Id:
RCV002970662
dbSNP Id:
rs141950964
ExAC:
4:187131663 G / T
gnomAD v2:
4-187131663-G-T
gnomAD v4:
4-186210509-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186210509G>T , CM000666.2:g.186210509G>T | GRCh38 |
| NC_000004.11:g.187131663G>T , CM000666.1:g.187131663G>T | GRCh37 |
| NC_000004.10:g.187368657G>T | NCBI36 |
| NG_007965.1:g.23990G>T | |
| NG_012095.2:g.6531G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1446G>T (CYP4V2) MANE Select | ENSP00000368079.4:p.Ser482= | |
| ENST00000378802.4:c.1446G>T (CYP4V2) | ENSP00000368079.4:p.Ser482= | |
| ENST00000502665.1:n.681G>T (CYP4V2) | ||
| ENST00000507209.5:n.6144G>T (CYP4V2) | ||
| ENST00000511608.5:c.201+1237G>T (KLKB1) | ||
| ENST00000513354.5:n.536G>T (CYP4V2) | ||
| NM_207352.3:c.1446G>T (CYP4V2) | NP_997235.3:p.Ser482= | |
| XM_005262935.2:c.1443G>T (CYP4V2) | XP_005262992.1:p.Ser481= | |
| XM_006714184.2:c.1050G>T (CYP4V2) | XP_006714247.1:p.Ser350= | |
| XM_005262935.4:c.1443G>T (CYP4V2) | XP_005262992.1:p.Ser481= | |
| XM_017008037.1:c.1050G>T (CYP4V2) | XP_016863526.1:p.Ser350= | |
| NM_207352.4:c.1446G>T (CYP4V2) MANE Select | NP_997235.3:p.Ser482= |