Linked Data
ClinVar Variation Id:
1445992
ClinVar RCV Id:
RCV001958396
dbSNP Id:
rs139270994
ExAC:
4:187130406 C / T
gnomAD v2:
4-187130406-C-T
gnomAD v3:
4-186209252-C-T
gnomAD v4:
4-186209252-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209252C>T , CM000666.2:g.186209252C>T | GRCh38 |
| NC_000004.11:g.187130406C>T , CM000666.1:g.187130406C>T | GRCh37 |
| NC_000004.10:g.187367400C>T | NCBI36 |
| NG_007965.1:g.22733C>T | |
| NG_012095.2:g.5274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1385C>T (CYP4V2) MANE Select | ENSP00000368079.4:p.Ala462Val | |
| ENST00000378802.4:c.1385C>T (CYP4V2) | ENSP00000368079.4:p.Ala462Val | |
| ENST00000502665.1:n.620C>T (CYP4V2) | ||
| ENST00000507209.5:n.6083C>T (CYP4V2) | ||
| ENST00000511608.5:c.181C>T (KLKB1) | ||
| ENST00000513354.5:n.475C>T (CYP4V2) | ||
| NM_207352.3:c.1385C>T (CYP4V2) | NP_997235.3:p.Ala462Val | |
| XM_005262935.2:c.1382C>T (CYP4V2) | XP_005262992.1:p.Ala461Val | |
| XM_006714184.2:c.989C>T (CYP4V2) | XP_006714247.1:p.Ala330Val | |
| XM_005262935.4:c.1382C>T (CYP4V2) | XP_005262992.1:p.Ala461Val | |
| XM_017008037.1:c.989C>T (CYP4V2) | XP_016863526.1:p.Ala330Val | |
| NM_207352.4:c.1385C>T (CYP4V2) MANE Select | NP_997235.3:p.Ala462Val |