gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209299C>T , CM000666.2:g.186209299C>T | GRCh38 |
| NC_000004.11:g.187130453C>T , CM000666.1:g.187130453C>T | GRCh37 |
| NC_000004.10:g.187367447C>T | NCBI36 |
| NG_007965.1:g.22780C>T | |
| NG_012095.2:g.5321C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1405+27C>T (CYP4V2) MANE Select | ENSP00000368079.4:n.1405+27C>T | |
| ENST00000378802.4:c.1405+27C>T (CYP4V2) | ENSP00000368079.4:n.1405+27C>T | |
| ENST00000502665.1:n.640+27C>T (CYP4V2) | ||
| ENST00000507209.5:n.6103+27C>T (CYP4V2) | ||
| ENST00000511608.5:c.201+27C>T (KLKB1) | ||
| ENST00000513354.5:n.495+27C>T (CYP4V2) | ||
| NM_207352.3:c.1405+27C>T (CYP4V2) | NP_997235.3:n.1405+27C>T | |
| XM_005262935.2:c.1402+27C>T (CYP4V2) | XP_005262992.1:n.1402+27C>T | |
| XM_006714184.2:c.1009+27C>T (CYP4V2) | XP_006714247.1:n.1009+27C>T | |
| XM_005262935.4:c.1402+27C>T (CYP4V2) | XP_005262992.1:n.1402+27C>T | |
| XM_017008037.1:c.1009+27C>T (CYP4V2) | XP_016863526.1:n.1009+27C>T | |
| NM_207352.4:c.1405+27C>T (CYP4V2) MANE Select | NP_997235.3:n.1405+27C>T |