Linked Data
ClinVar Variation Id:
301734
ClinVar RCV Id:
RCV000389626
dbSNP Id:
rs752683058
ExAC:
10:96084334 A / G
gnomAD v2:
10-96084334-A-G
gnomAD v3:
10-94324577-A-G
gnomAD v4:
10-94324577-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94324577A>G , CM000672.2:g.94324577A>G | GRCh38 |
| NC_000010.10:g.96084334A>G , CM000672.1:g.96084334A>G | GRCh37 |
| NC_000010.9:g.96074324A>G | NCBI36 |
| NG_015799.1:g.335589A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.5796+10A>G (PLCE1) | ENSP00000360426.1:n.5796+10A>G | |
| ENST00000685253.1:c.*3263+10A>G (PLCE1) | ENSP00000509405.1:n.*3263+10A>G | |
| ENST00000685889.1:n.3455+10A>G (PLCE1) | ||
| ENST00000686807.1:n.2139+10A>G (PLCE1) | ||
| ENST00000686954.1:c.*2004+10A>G (PLCE1) | ENSP00000508416.1:n.*2004+10A>G | |
| ENST00000688810.1:c.5748+10A>G (PLCE1) | ENSP00000509140.1:n.5748+10A>G | |
| ENST00000689233.1:n.10928+10A>G (PLCE1) | ||
| ENST00000690340.1:n.4364+10A>G (PLCE1) | ||
| ENST00000692286.1:c.6588+10A>G (PLCE1) | ENSP00000509490.1:n.6588+10A>G | |
| ENST00000692396.1:c.6672+10A>G (PLCE1) | ENSP00000508605.1:n.6672+10A>G | |
| ENST00000371380.8:c.6720+10A>G (PLCE1) MANE Select | ENSP00000360431.2:n.6720+10A>G | |
| ENST00000371385.8:c.5694+10A>G (PLCE1) | ENSP00000360438.4:n.5694+10A>G | |
| ENST00000675218.1:c.5796+10A>G (PLCE1) | ENSP00000501910.1:n.5796+10A>G | |
| ENST00000675487.1:c.*2653+10A>G (PLCE1) | ENSP00000502340.1:n.*2653+10A>G | |
| ENST00000260766.7:c.6720+10A>G (PLCE1) | ENSP00000260766.3:n.6720+10A>G | |
| ENST00000371375.1:c.5796+10A>G (PLCE1) | ENSP00000360426.1:n.5796+10A>G | |
| ENST00000371380.7:c.6720+10A>G (PLCE1) | ENSP00000360431.2:n.6720+10A>G | |
| ENST00000371385.7:c.5796+10A>G (PLCE1) | ENSP00000360438.3:n.5796+10A>G | |
| NM_001165979.2:c.5796+10A>G (PLCE1) | NP_001159451.1:n.5796+10A>G | |
| NM_001288989.1:c.6672+10A>G (PLCE1) | NP_001275918.1:n.6672+10A>G | |
| NM_016341.3:c.6720+10A>G (PLCE1) | NP_057425.3:n.6720+10A>G | |
| XM_006717885.2:c.6762+10A>G (PLCE1) | XP_006717948.1:n.6762+10A>G | |
| XM_006717886.2:c.6762+10A>G (PLCE1) | XP_006717949.1:n.6762+10A>G | |
| XM_006717888.2:c.6759+10A>G (PLCE1) | XP_006717951.1:n.6759+10A>G | |
| XM_006717889.2:c.6714+10A>G (PLCE1) | XP_006717952.1:n.6714+10A>G | |
| XM_006717890.1:c.5838+10A>G (PLCE1) | XP_006717953.1:n.5838+10A>G | |
| XM_011539849.1:c.6762+10A>G (PLCE1) | XP_011538151.1:n.6762+10A>G | |
| XM_011539850.1:c.5607+10A>G (PLCE1) | XP_011538152.1:n.5607+10A>G | |
| XR_945799.1:n.3310+8813T>C (NOC3L) | ||
| XM_006717885.4:c.6762+10A>G (PLCE1) | XP_006717948.1:n.6762+10A>G | |
| XM_006717888.4:c.6759+10A>G (PLCE1) | XP_006717951.1:n.6759+10A>G | |
| XM_006717889.4:c.6714+10A>G (PLCE1) | XP_006717952.1:n.6714+10A>G | |
| XM_006717890.3:c.5838+10A>G (PLCE1) | XP_006717953.1:n.5838+10A>G | |
| XM_011539849.3:c.6762+10A>G (PLCE1) | XP_011538151.1:n.6762+10A>G | |
| XM_011539850.3:c.5607+10A>G (PLCE1) | XP_011538152.1:n.5607+10A>G | |
| XM_017016310.2:c.6762+10A>G (PLCE1) | XP_016871799.1:n.6762+10A>G | |
| XM_017016311.2:c.6762+10A>G (PLCE1) | XP_016871800.1:n.6762+10A>G | |
| XM_017016312.2:c.5748+10A>G (PLCE1) | XP_016871801.1:n.5748+10A>G | |
| XR_002957007.1:n.3311+8813T>C (NOC3L) | ||
| NM_001288989.2:c.6672+10A>G (PLCE1) | NP_001275918.1:n.6672+10A>G | |
| NM_016341.4:c.6720+10A>G (PLCE1) MANE Select | NP_057425.3:n.6720+10A>G |