Linked Data
ClinVar Variation Id:
5552
ClinVar RCV Id:
RCV000005891
dbSNP Id:
rs121908440
ExAC:
13:94482787 C / T
gnomAD v2:
13-94482787-C-T
gnomAD v4:
13-93830534-C-T
PubMed:
PMID:19481194
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.93830534C>T , CM000675.2:g.93830534C>T | GRCh38 |
| NC_000013.10:g.94482787C>T , CM000675.1:g.94482787C>T | GRCh37 |
| NC_000013.9:g.93280788C>T | NCBI36 |
| NG_011880.1:g.608710C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377047.9:c.700C>T (GPC6) MANE Select | ENSP00000366246.3:p.Arg234Ter | |
| ENST00000377047.8:c.700C>T (GPC6) | ENSP00000366246.3:p.Arg234Ter | |
| NM_005708.3:c.700C>T (GPC6) | NP_005699.1:p.Arg234Ter | |
| NR_046536.1:n.380+282G>A (GPC6-AS2) | ||
| XM_011521044.1:c.490C>T (GPC6) | XP_011519346.1:p.Arg164Ter | |
| NM_005708.4:c.700C>T (GPC6) | NP_005699.1:p.Arg234Ter | |
| XM_011521044.2:c.490C>T (GPC6) | XP_011519346.1:p.Arg164Ter | |
| XM_017020298.1:c.490C>T (GPC6) | XP_016875787.1:p.Arg164Ter | |
| XM_017020299.2:c.490C>T (GPC6) | XP_016875788.1:p.Arg164Ter | |
| XM_017020300.1:c.490C>T (GPC6) | XP_016875789.1:p.Arg164Ter | |
| XM_017020301.1:c.334C>T (GPC6) | XP_016875790.1:p.Arg112Ter | |
| NM_005708.5:c.700C>T (GPC6) MANE Select | NP_005699.1:p.Arg234Ter |