Linked Data
ClinVar Variation Id:
348314
dbSNP Id:
rs762821992
ExAC:
4:187131640 A / G
gnomAD v2:
4-187131640-A-G
gnomAD v3:
4-186210486-A-G
gnomAD v4:
4-186210486-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186210486A>G , CM000666.2:g.186210486A>G | GRCh38 |
| NC_000004.11:g.187131640A>G , CM000666.1:g.187131640A>G | GRCh37 |
| NC_000004.10:g.187368634A>G | NCBI36 |
| NG_007965.1:g.23967A>G | |
| NG_012095.2:g.6508A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1423A>G (CYP4V2) MANE Select | ENSP00000368079.4:p.Met475Val | |
| ENST00000378802.4:c.1423A>G (CYP4V2) | ENSP00000368079.4:p.Met475Val | |
| ENST00000502665.1:n.658A>G (CYP4V2) | ||
| ENST00000507209.5:n.6121A>G (CYP4V2) | ||
| ENST00000511608.5:c.201+1214A>G (KLKB1) | ||
| ENST00000513354.5:n.513A>G (CYP4V2) | ||
| NM_207352.3:c.1423A>G (CYP4V2) | NP_997235.3:p.Met475Val | |
| XM_005262935.2:c.1420A>G (CYP4V2) | XP_005262992.1:p.Met474Val | |
| XM_006714184.2:c.1027A>G (CYP4V2) | XP_006714247.1:p.Met343Val | |
| XM_005262935.4:c.1420A>G (CYP4V2) | XP_005262992.1:p.Met474Val | |
| XM_017008037.1:c.1027A>G (CYP4V2) | XP_016863526.1:p.Met343Val | |
| NM_207352.4:c.1423A>G (CYP4V2) MANE Select | NP_997235.3:p.Met475Val |