Linked Data
dbSNP Id:
rs774903143
ExAC:
4:187130252 TAC / T
gnomAD v2:
4-187130252-TAC-T
gnomAD v4:
4-186209098-TAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209100_186209101del , CM000666.2:g.186209100_186209101del | GRCh38 |
| NC_000004.11:g.187130254_187130255del , CM000666.1:g.187130254_187130255del | GRCh37 |
| NC_000004.10:g.187367248_187367249del | NCBI36 |
| NG_007965.1:g.22581_22582del | |
| NG_012095.2:g.5122_5123del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1233_1234del (CYP4V2) MANE Select | ENSP00000368079.4:p.Tyr411Ter | |
| ENST00000378802.4:c.1233_1234del (CYP4V2) | ENSP00000368079.4:p.Tyr411Ter | |
| ENST00000502665.1:n.468_469del (CYP4V2) | ||
| ENST00000507209.5:n.5931_5932del (CYP4V2) | ||
| ENST00000511608.5:c.29_30del (KLKB1) | ||
| ENST00000513354.5:n.323_324del (CYP4V2) | ||
| NM_207352.3:c.1233_1234del (CYP4V2) | NP_997235.3:p.Tyr411Ter | |
| XM_005262935.2:c.1230_1231del (CYP4V2) | XP_005262992.1:p.Tyr410Ter | |
| XM_006714184.2:c.837_838del (CYP4V2) | XP_006714247.1:p.Tyr279Ter | |
| XM_005262935.4:c.1230_1231del (CYP4V2) | XP_005262992.1:p.Tyr410Ter | |
| XM_017008037.1:c.837_838del (CYP4V2) | XP_016863526.1:p.Tyr279Ter | |
| NM_207352.4:c.1233_1234del (CYP4V2) MANE Select | NP_997235.3:p.Tyr411Ter |