Linked Data
ClinVar Variation Id:
348361
dbSNP Id:
rs72646302
gnomAD v2:
4-187133901-G-T
gnomAD v3:
4-186212747-G-T
gnomAD v4:
4-186212747-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186212747G>T , CM000666.2:g.186212747G>T | GRCh38 |
| NC_000004.11:g.187133901G>T , CM000666.1:g.187133901G>T | GRCh37 |
| NC_000004.10:g.187370895G>T | NCBI36 |
| NG_007965.1:g.26228G>T | |
| NG_012095.2:g.8769G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.*2106G>T (CYP4V2) MANE Select | ENSP00000368079.4:n.*2106G>T | |
| ENST00000502665.1:n.2919G>T (CYP4V2) | ||
| ENST00000507209.5:n.8382G>T (CYP4V2) | ||
| ENST00000511608.5:c.201+3475G>T (KLKB1) | ||
| NM_207352.3:c.*2106G>T (CYP4V2) | NP_997235.3:n.*2106G>T | |
| XM_005262935.2:c.*2106G>T (CYP4V2) | XP_005262992.1:n.*2106G>T | |
| XM_006714184.2:c.*2106G>T (CYP4V2) | XP_006714247.1:n.*2106G>T | |
| XM_011531931.1:c.-1962G>T (KLKB1) | XP_011530233.1:n.-1962G>T | |
| XM_011531932.1:c.-2212G>T (KLKB1) | XP_011530234.1:n.-2212G>T | |
| XM_011531933.1:c.-2026G>T (KLKB1) | XP_011530235.1:n.-2026G>T | |
| XM_005262935.4:c.*2106G>T (CYP4V2) | XP_005262992.1:n.*2106G>T | |
| XM_017008037.1:c.*2106G>T (CYP4V2) | XP_016863526.1:n.*2106G>T | |
| NM_207352.4:c.*2106G>T (CYP4V2) MANE Select | NP_997235.3:n.*2106G>T |