Linked Data
ClinVar Variation Id:
369472
ClinVar RCV Id:
RCV000395527
dbSNP Id:
rs80164363
gnomAD v2:
5-37249533-C-G
gnomAD v3:
5-37249431-C-G
gnomAD v4:
5-37249431-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37249431C>G , CM000667.2:g.37249431C>G | GRCh38 |
| NC_000005.9:g.37249533C>G , CM000667.1:g.37249533C>G | GRCh37 |
| NC_000005.8:g.37285290C>G | NCBI36 |
| NG_032772.1:g.4998G>C | |
| NG_032772.2:g.4998G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925921.1:n.171+210C>G (CPLANE1-AS1) | ||
| NR_134263.1:n.176+210C>G (CPLANE1-AS1) | ||
| XM_005248345.4:c.-234G>C (CPLANE1) | XP_005248402.1:n.-234G>C | |
| XM_005248346.4:c.-234G>C (CPLANE1) | XP_005248403.1:n.-234G>C | |
| XM_005248347.4:c.-234G>C (CPLANE1) | XP_005248404.1:n.-234G>C | |
| XM_005248349.4:c.-234G>C (CPLANE1) | XP_005248406.1:n.-234G>C | |
| XM_005248350.4:c.-234G>C (CPLANE1) | XP_005248407.1:n.-234G>C |