Linked Data
dbSNP Id:
rs368664467
ExAC:
10:72643772 C / T
gnomAD v2:
10-72643772-C-T
gnomAD v3:
10-70884015-C-T
gnomAD v4:
10-70884015-C-T
COSMIC:
COSM920066
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70884015C>T , CM000672.2:g.70884015C>T | GRCh38 |
| NC_000010.10:g.72643772C>T , CM000672.1:g.72643772C>T | GRCh37 |
| NC_000010.9:g.72313778C>T | NCBI36 |
| NG_008646.1:g.9770G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697988.1:c.571-9744C>T (SGPL1) | ENSP00000513492.1:n.571-9744C>T | |
| ENST00000299299.4:c.250G>A (PCBD1) MANE Select | ENSP00000299299.3:p.Gly84Ser | |
| ENST00000299299.3:c.250G>A (PCBD1) | ENSP00000299299.3:p.Gly84Ser | |
| ENST00000493228.1:n.649G>A (PCBD1) | ||
| ENST00000493961.5:n.183+1137G>A (PCBD1) | ||
| NM_000281.3:c.250G>A (PCBD1) | NP_000272.1:p.Gly84Ser | |
| NM_001289797.1:c.103G>A (PCBD1) | NP_001276726.1:p.Gly35Ser | |
| XM_005269877.1:c.216+1137G>A (PCBD1) | XP_005269934.1:n.216+1137G>A | |
| NM_001323004.1:c.216+1137G>A (PCBD1) | NP_001309933.1:n.216+1137G>A | |
| NM_000281.4:c.250G>A (PCBD1) MANE Select | NP_000272.1:p.Gly84Ser | |
| NM_001289797.2:c.103G>A (PCBD1) | NP_001276726.1:p.Gly35Ser | |
| NM_001323004.2:c.216+1137G>A (PCBD1) | NP_001309933.1:n.216+1137G>A |