Linked Data
ClinVar Variation Id:
433182
ClinVar RCV Id:
RCV000498760
dbSNP Id:
rs761575210
gnomAD v4:
4-107932095-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107932095C>T , CM000666.2:g.107932095C>T | GRCh38 |
| NC_000004.11:g.108853251C>T , CM000666.1:g.108853251C>T | GRCh37 |
| NC_000004.10:g.109072700C>T | NCBI36 |
| NG_007961.1:g.5535C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332884.11:c.452C>T (CYP2U1) MANE Select | ENSP00000333212.6:p.Pro151Leu | |
| ENST00000332884.10:c.452C>T (CYP2U1) | ENSP00000333212.6:p.Pro151Leu | |
| ENST00000508453.1:c.-374C>T (CYP2U1) | ENSP00000423667.1:n.-374C>T | |
| ENST00000513302.1:n.511C>T (CYP2U1) | ||
| NM_183075.2:c.452C>T (CYP2U1) | NP_898898.1:p.Pro151Leu | |
| NR_125929.1:n.25G>A (CYP2U1-AS1) | ||
| XM_005262717.2:c.452C>T (CYP2U1) | XP_005262774.1:p.Pro151Leu | |
| XM_005262720.2:c.452C>T (CYP2U1) | XP_005262777.1:p.Pro151Leu | |
| XR_001741783.1:n.156-21546G>A | ||
| XR_001741784.1:n.531-21546G>A | ||
| NM_183075.3:c.452C>T (CYP2U1) MANE Select | NP_898898.1:p.Pro151Leu |