Linked Data
ClinVar Variation Id:
711030
ClinVar RCV Id:
RCV000882719
dbSNP Id:
rs75735760
ExAC:
9:139743890 T / C
gnomAD v2:
9-139743890-T-C
gnomAD v3:
9-136849438-T-C
gnomAD v4:
9-136849438-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136849438T>C , CM000671.2:g.136849438T>C | GRCh38 |
| NC_000009.11:g.139743890T>C , CM000671.1:g.139743890T>C | GRCh37 |
| NC_000009.10:g.138863711T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247665.12:c.8T>C (PHPT1) MANE Select | ENSP00000247665.10:p.Val3Ala | |
| ENST00000247665.11:c.8T>C (PHPT1) | ENSP00000247665.10:p.Val3Ala | |
| ENST00000371661.5:c.8T>C (PHPT1) | ENSP00000360724.1:p.Val3Ala | |
| ENST00000432842.6:c.*1037+12435T>C (RABL6) | ENSP00000414081.3:n.*1037+12435T>C | |
| ENST00000462205.5:n.14T>C (PHPT1) | ||
| ENST00000492540.5:n.348T>C (PHPT1) | ||
| ENST00000497413.1:n.13T>C (PHPT1) | ||
| NM_001135861.2:c.8T>C (PHPT1) | NP_001129333.1:p.Val3Ala | |
| NM_001287342.1:c.8T>C (PHPT1) | NP_001274271.1:p.Val3Ala | |
| NM_001287343.1:c.8T>C (PHPT1) | NP_001274272.1:p.Val3Ala | |
| NM_014172.5:c.8T>C (PHPT1) | NP_054891.2:p.Val3Ala | |
| NR_109807.1:n.623T>C (PHPT1) | ||
| NR_109808.1:n.623T>C (PHPT1) | ||
| NM_001135861.3:c.8T>C (PHPT1) | NP_001129333.1:p.Val3Ala | |
| NM_001287342.2:c.8T>C (PHPT1) | NP_001274271.1:p.Val3Ala | |
| NM_001287343.2:c.8T>C (PHPT1) | NP_001274272.1:p.Val3Ala | |
| NM_014172.6:c.8T>C (PHPT1) MANE Select | NP_054891.2:p.Val3Ala | |
| NR_109807.2:n.30T>C (PHPT1) | ||
| NR_109808.2:n.30T>C (PHPT1) |