Revel Score:
ENST00000378802 (MANE Select)
0.751
ENST00000274118
0.751
ENST00000511608
0.747
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186208987G>C , CM000666.2:g.186208987G>C | GRCh38 |
| NC_000004.11:g.187130141G>C , CM000666.1:g.187130141G>C | GRCh37 |
| NC_000004.10:g.187367135G>C | NCBI36 |
| NG_007965.1:g.22468G>C | |
| NG_012095.2:g.5009G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1213G>C (CYP4V2) MANE Select | ENSP00000368079.4:p.Asp405His | |
| ENST00000378802.4:c.1213G>C (CYP4V2) | ENSP00000368079.4:p.Asp405His | |
| ENST00000502665.1:n.448G>C (CYP4V2) | ||
| ENST00000507209.5:n.5911G>C (CYP4V2) | ||
| ENST00000511608.5:c.9G>C (KLKB1) | ||
| ENST00000513354.5:n.303G>C (CYP4V2) | ||
| NM_207352.3:c.1213G>C (CYP4V2) | NP_997235.3:p.Asp405His | |
| XM_005262935.2:c.1213G>C (CYP4V2) | XP_005262992.1:p.Asp405His | |
| XM_006714184.2:c.817G>C (CYP4V2) | XP_006714247.1:p.Asp273His | |
| XM_005262935.4:c.1213G>C (CYP4V2) | XP_005262992.1:p.Asp405His | |
| XM_017008037.1:c.817G>C (CYP4V2) | XP_016863526.1:p.Asp273His | |
| NM_207352.4:c.1213G>C (CYP4V2) MANE Select | NP_997235.3:p.Asp405His |