Linked Data
ClinVar Variation Id:
301740
ClinVar RCV Id:
RCV000400272
dbSNP Id:
rs79412094
gnomAD v2:
10-96087953-C-T
gnomAD v3:
10-94328196-C-T
gnomAD v4:
10-94328196-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94328196C>T , CM000672.2:g.94328196C>T | GRCh38 |
| NC_000010.10:g.96087953C>T , CM000672.1:g.96087953C>T | GRCh37 |
| NC_000010.9:g.96077943C>T | NCBI36 |
| NG_015799.1:g.339208C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.9101C>T (PLCE1) | ENSP00000360426.1:n.9101C>T | |
| ENST00000688810.1:c.6190C>T (PLCE1) | ENSP00000509140.1:n.6190C>T | |
| ENST00000690340.1:n.4806C>T (PLCE1) | ||
| ENST00000692396.1:c.*253C>T (PLCE1) | ENSP00000508605.1:n.*253C>T | |
| ENST00000371380.8:c.*253C>T (PLCE1) MANE Select | ENSP00000360431.2:n.*253C>T | |
| ENST00000371385.8:c.*253C>T (PLCE1) | ENSP00000360438.4:n.*253C>T | |
| ENST00000675218.1:c.6238C>T (PLCE1) | ENSP00000501910.1:n.6238C>T | |
| ENST00000675487.1:c.*3095C>T (PLCE1) | ENSP00000502340.1:n.*3095C>T | |
| ENST00000260766.7:c.*253C>T (PLCE1) | ENSP00000260766.3:n.*253C>T | |
| ENST00000371380.7:c.*253C>T (PLCE1) | ENSP00000360431.2:n.*253C>T | |
| ENST00000371385.7:c.*253C>T (PLCE1) | ENSP00000360438.3:n.*253C>T | |
| NM_001165979.2:c.*253C>T (PLCE1) | NP_001159451.1:n.*253C>T | |
| NM_001288989.1:c.*253C>T (PLCE1) | NP_001275918.1:n.*253C>T | |
| NM_016341.3:c.*253C>T (PLCE1) | NP_057425.3:n.*253C>T | |
| XM_006717885.2:c.*253C>T (PLCE1) | XP_006717948.1:n.*253C>T | |
| XM_006717888.2:c.*253C>T (PLCE1) | XP_006717951.1:n.*253C>T | |
| XM_006717889.2:c.*253C>T (PLCE1) | XP_006717952.1:n.*253C>T | |
| XM_006717890.1:c.*253C>T (PLCE1) | XP_006717953.1:n.*253C>T | |
| XM_011539849.1:c.*253C>T (PLCE1) | XP_011538151.1:n.*253C>T | |
| XM_011539850.1:c.*253C>T (PLCE1) | XP_011538152.1:n.*253C>T | |
| XR_945799.1:n.3310+5194G>A (NOC3L) | ||
| XM_006717885.4:c.*253C>T (PLCE1) | XP_006717948.1:n.*253C>T | |
| XM_006717888.4:c.*253C>T (PLCE1) | XP_006717951.1:n.*253C>T | |
| XM_006717889.4:c.*253C>T (PLCE1) | XP_006717952.1:n.*253C>T | |
| XM_006717890.3:c.*253C>T (PLCE1) | XP_006717953.1:n.*253C>T | |
| XM_011539849.3:c.*253C>T (PLCE1) | XP_011538151.1:n.*253C>T | |
| XM_011539850.3:c.*253C>T (PLCE1) | XP_011538152.1:n.*253C>T | |
| XM_017016310.2:c.*253C>T (PLCE1) | XP_016871799.1:n.*253C>T | |
| XM_017016312.2:c.*253C>T (PLCE1) | XP_016871801.1:n.*253C>T | |
| XR_002957007.1:n.3311+5194G>A (NOC3L) | ||
| NM_001288989.2:c.*253C>T (PLCE1) | NP_001275918.1:n.*253C>T | |
| NM_016341.4:c.*253C>T (PLCE1) MANE Select | NP_057425.3:n.*253C>T |