Linked Data
ClinVar Variation Id:
91907
ClinVar RCV Id:
RCV000143792
dbSNP Id:
rs397518416
ExAC:
10:72643733 C / T
gnomAD v2:
10-72643733-C-T
gnomAD v3:
10-70883976-C-T
gnomAD v4:
10-70883976-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70883976C>T , CM000672.2:g.70883976C>T | GRCh38 |
| NC_000010.10:g.72643733C>T , CM000672.1:g.72643733C>T | GRCh37 |
| NC_000010.9:g.72313739C>T | NCBI36 |
| NG_008646.1:g.9809G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697988.1:c.571-9783C>T (SGPL1) | ENSP00000513492.1:n.571-9783C>T | |
| ENST00000299299.4:c.289G>A (PCBD1) MANE Select | ENSP00000299299.3:p.Glu97Lys | |
| ENST00000299299.3:c.289G>A (PCBD1) | ENSP00000299299.3:p.Glu97Lys | |
| ENST00000493228.1:n.688G>A (PCBD1) | ||
| ENST00000493961.5:n.183+1176G>A (PCBD1) | ||
| NM_000281.3:c.289G>A (PCBD1) | NP_000272.1:p.Glu97Lys | |
| NM_001289797.1:c.142G>A (PCBD1) | NP_001276726.1:p.Glu48Lys | |
| XM_005269877.1:c.216+1176G>A (PCBD1) | XP_005269934.1:n.216+1176G>A | |
| NM_001323004.1:c.216+1176G>A (PCBD1) | NP_001309933.1:n.216+1176G>A | |
| NM_000281.4:c.289G>A (PCBD1) MANE Select | NP_000272.1:p.Glu97Lys | |
| NM_001289797.2:c.142G>A (PCBD1) | NP_001276726.1:p.Glu48Lys | |
| NM_001323004.2:c.216+1176G>A (PCBD1) | NP_001309933.1:n.216+1176G>A |