Linked Data
ClinVar Variation Id:
348363
dbSNP Id:
rs576134216
gnomAD v2:
4-187134098-G-C
gnomAD v3:
4-186212944-G-C
gnomAD v4:
4-186212944-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186212944G>C , CM000666.2:g.186212944G>C | GRCh38 |
| NC_000004.11:g.187134098G>C , CM000666.1:g.187134098G>C | GRCh37 |
| NC_000004.10:g.187371092G>C | NCBI36 |
| NG_007965.1:g.26425G>C | |
| NG_012095.2:g.8966G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.*2303G>C (CYP4V2) MANE Select | ENSP00000368079.4:n.*2303G>C | |
| ENST00000502665.1:n.3116G>C (CYP4V2) | ||
| ENST00000507209.5:n.8579G>C (CYP4V2) | ||
| ENST00000511608.5:c.201+3672G>C (KLKB1) | ||
| NM_207352.3:c.*2303G>C (CYP4V2) | NP_997235.3:n.*2303G>C | |
| XM_005262935.2:c.*2303G>C (CYP4V2) | XP_005262992.1:n.*2303G>C | |
| XM_006714184.2:c.*2303G>C (CYP4V2) | XP_006714247.1:n.*2303G>C | |
| XM_011531931.1:c.-1765G>C (KLKB1) | XP_011530233.1:n.-1765G>C | |
| XM_011531932.1:c.-2015G>C (KLKB1) | XP_011530234.1:n.-2015G>C | |
| XM_011531933.1:c.-1829G>C (KLKB1) | XP_011530235.1:n.-1829G>C | |
| XM_005262935.4:c.*2303G>C (CYP4V2) | XP_005262992.1:n.*2303G>C | |
| XM_017008037.1:c.*2303G>C (CYP4V2) | XP_016863526.1:n.*2303G>C | |
| NM_207352.4:c.*2303G>C (CYP4V2) MANE Select | NP_997235.3:n.*2303G>C |