Linked Data
ClinVar Variation Id:
300345
dbSNP Id:
rs9712
ExAC:
10:72643671 C / T
gnomAD v2:
10-72643671-C-T
gnomAD v3:
10-70883914-C-T
gnomAD v4:
10-70883914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70883914C>T , CM000672.2:g.70883914C>T | GRCh38 |
| NC_000010.10:g.72643671C>T , CM000672.1:g.72643671C>T | GRCh37 |
| NC_000010.9:g.72313677C>T | NCBI36 |
| NG_008646.1:g.9871G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697988.1:c.571-9845C>T (SGPL1) | ENSP00000513492.1:n.571-9845C>T | |
| ENST00000299299.4:c.*36G>A (PCBD1) MANE Select | ENSP00000299299.3:n.*36G>A | |
| ENST00000299299.3:c.*36G>A (PCBD1) | ENSP00000299299.3:n.*36G>A | |
| ENST00000493961.5:n.183+1238G>A (PCBD1) | ||
| NM_000281.3:c.*36G>A (PCBD1) | NP_000272.1:n.*36G>A | |
| NM_001289797.1:c.*36G>A (PCBD1) | NP_001276726.1:n.*36G>A | |
| XM_005269877.1:c.216+1238G>A (PCBD1) | XP_005269934.1:n.216+1238G>A | |
| NM_001323004.1:c.216+1238G>A (PCBD1) | NP_001309933.1:n.216+1238G>A | |
| NM_000281.4:c.*36G>A (PCBD1) MANE Select | NP_000272.1:n.*36G>A | |
| NM_001289797.2:c.*36G>A (PCBD1) | NP_001276726.1:n.*36G>A | |
| NM_001323004.2:c.216+1238G>A (PCBD1) | NP_001309933.1:n.216+1238G>A |