Linked Data
dbSNP Id:
rs902135712
gnomAD v2:
4-187133835-T-C
gnomAD v3:
4-186212681-T-C
gnomAD v4:
4-186212681-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186212681T>C , CM000666.2:g.186212681T>C | GRCh38 |
| NC_000004.11:g.187133835T>C , CM000666.1:g.187133835T>C | GRCh37 |
| NC_000004.10:g.187370829T>C | NCBI36 |
| NG_007965.1:g.26162T>C | |
| NG_012095.2:g.8703T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.*2040T>C (CYP4V2) MANE Select | ENSP00000368079.4:n.*2040T>C | |
| ENST00000502665.1:n.2853T>C (CYP4V2) | ||
| ENST00000507209.5:n.8316T>C (CYP4V2) | ||
| ENST00000511608.5:c.201+3409T>C (KLKB1) | ||
| NM_207352.3:c.*2040T>C (CYP4V2) | NP_997235.3:n.*2040T>C | |
| XM_005262935.2:c.*2040T>C (CYP4V2) | XP_005262992.1:n.*2040T>C | |
| XM_006714184.2:c.*2040T>C (CYP4V2) | XP_006714247.1:n.*2040T>C | |
| XM_011531931.1:c.-2028T>C (KLKB1) | XP_011530233.1:n.-2028T>C | |
| XM_011531932.1:c.-2278T>C (KLKB1) | XP_011530234.1:n.-2278T>C | |
| XM_011531933.1:c.-2092T>C (KLKB1) | XP_011530235.1:n.-2092T>C | |
| XM_005262935.4:c.*2040T>C (CYP4V2) | XP_005262992.1:n.*2040T>C | |
| XM_017008037.1:c.*2040T>C (CYP4V2) | XP_016863526.1:n.*2040T>C | |
| NM_207352.4:c.*2040T>C (CYP4V2) MANE Select | NP_997235.3:n.*2040T>C |