Linked Data
ClinVar Variation Id:
348324
dbSNP Id:
rs10033577
gnomAD v2:
4-187132520-C-T
gnomAD v3:
4-186211366-C-T
gnomAD v4:
4-186211366-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186211366C>T , CM000666.2:g.186211366C>T | GRCh38 |
| NC_000004.11:g.187132520C>T , CM000666.1:g.187132520C>T | GRCh37 |
| NC_000004.10:g.187369514C>T | NCBI36 |
| NG_007965.1:g.24847C>T | |
| NG_012095.2:g.7388C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.*725C>T (CYP4V2) MANE Select | ENSP00000368079.4:n.*725C>T | |
| ENST00000502665.1:n.1538C>T (CYP4V2) | ||
| ENST00000507209.5:n.7001C>T (CYP4V2) | ||
| ENST00000511608.5:c.201+2094C>T (KLKB1) | ||
| NM_207352.3:c.*725C>T (CYP4V2) | NP_997235.3:n.*725C>T | |
| XM_005262935.2:c.*725C>T (CYP4V2) | XP_005262992.1:n.*725C>T | |
| XM_006714184.2:c.*725C>T (CYP4V2) | XP_006714247.1:n.*725C>T | |
| XM_011531931.1:c.-3343C>T (KLKB1) | XP_011530233.1:n.-3343C>T | |
| XM_011531932.1:c.-3593C>T (KLKB1) | XP_011530234.1:n.-3593C>T | |
| XM_011531933.1:c.-3407C>T (KLKB1) | XP_011530235.1:n.-3407C>T | |
| XM_005262935.4:c.*725C>T (CYP4V2) | XP_005262992.1:n.*725C>T | |
| XM_017008037.1:c.*725C>T (CYP4V2) | XP_016863526.1:n.*725C>T | |
| NM_207352.4:c.*725C>T (CYP4V2) MANE Select | NP_997235.3:n.*725C>T |