Linked Data
ClinVar Variation Id:
1391408
ClinVar RCV Id:
RCV001893064
dbSNP Id:
rs781400516
ExAC:
4:187130270 A / T
gnomAD v2:
4-187130270-A-T
gnomAD v4:
4-186209116-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209116A>T , CM000666.2:g.186209116A>T | GRCh38 |
| NC_000004.11:g.187130270A>T , CM000666.1:g.187130270A>T | GRCh37 |
| NC_000004.10:g.187367264A>T | NCBI36 |
| NG_007965.1:g.22597A>T | |
| NG_012095.2:g.5138A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1249A>T (CYP4V2) MANE Select | ENSP00000368079.4:p.Thr417Ser | |
| ENST00000378802.4:c.1249A>T (CYP4V2) | ENSP00000368079.4:p.Thr417Ser | |
| ENST00000502665.1:n.484A>T (CYP4V2) | ||
| ENST00000507209.5:n.5947A>T (CYP4V2) | ||
| ENST00000511608.5:c.45A>T (KLKB1) | ||
| ENST00000513354.5:n.339A>T (CYP4V2) | ||
| NM_207352.3:c.1249A>T (CYP4V2) | NP_997235.3:p.Thr417Ser | |
| XM_005262935.2:c.1246A>T (CYP4V2) | XP_005262992.1:p.Thr416Ser | |
| XM_006714184.2:c.853A>T (CYP4V2) | XP_006714247.1:p.Thr285Ser | |
| XM_005262935.4:c.1246A>T (CYP4V2) | XP_005262992.1:p.Thr416Ser | |
| XM_017008037.1:c.853A>T (CYP4V2) | XP_016863526.1:p.Thr285Ser | |
| NM_207352.4:c.1249A>T (CYP4V2) MANE Select | NP_997235.3:p.Thr417Ser |