Linked Data
dbSNP Id:
rs1342848810
gnomAD v2:
10-72643686-T-C
gnomAD v3:
10-70883929-T-C
gnomAD v4:
10-70883929-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70883929T>C , CM000672.2:g.70883929T>C | GRCh38 |
| NC_000010.10:g.72643686T>C , CM000672.1:g.72643686T>C | GRCh37 |
| NC_000010.9:g.72313692T>C | NCBI36 |
| NG_008646.1:g.9856A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697988.1:c.571-9830T>C (SGPL1) | ENSP00000513492.1:n.571-9830T>C | |
| ENST00000299299.4:c.*21A>G (PCBD1) MANE Select | ENSP00000299299.3:n.*21A>G | |
| ENST00000299299.3:c.*21A>G (PCBD1) | ENSP00000299299.3:n.*21A>G | |
| ENST00000493961.5:n.183+1223A>G (PCBD1) | ||
| NM_000281.3:c.*21A>G (PCBD1) | NP_000272.1:n.*21A>G | |
| NM_001289797.1:c.*21A>G (PCBD1) | NP_001276726.1:n.*21A>G | |
| XM_005269877.1:c.216+1223A>G (PCBD1) | XP_005269934.1:n.216+1223A>G | |
| NM_001323004.1:c.216+1223A>G (PCBD1) | NP_001309933.1:n.216+1223A>G | |
| NM_000281.4:c.*21A>G (PCBD1) MANE Select | NP_000272.1:n.*21A>G | |
| NM_001289797.2:c.*21A>G (PCBD1) | NP_001276726.1:n.*21A>G | |
| NM_001323004.2:c.216+1223A>G (PCBD1) | NP_001309933.1:n.216+1223A>G |