Linked Data
dbSNP Id:
rs776515314
ExAC:
13:94482801 A / G
gnomAD v2:
13-94482801-A-G
gnomAD v4:
13-93830548-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.93830548A>G , CM000675.2:g.93830548A>G | GRCh38 |
| NC_000013.10:g.94482801A>G , CM000675.1:g.94482801A>G | GRCh37 |
| NC_000013.9:g.93280802A>G | NCBI36 |
| NG_011880.1:g.608724A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377047.9:c.711+3A>G (GPC6) MANE Select | ENSP00000366246.3:n.711+3A>G | |
| ENST00000377047.8:c.711+3A>G (GPC6) | ENSP00000366246.3:n.711+3A>G | |
| NM_005708.3:c.711+3A>G (GPC6) | NP_005699.1:n.711+3A>G | |
| NR_046536.1:n.380+268T>C (GPC6-AS2) | ||
| XM_011521044.1:c.501+3A>G (GPC6) | XP_011519346.1:n.501+3A>G | |
| NM_005708.4:c.711+3A>G (GPC6) | NP_005699.1:n.711+3A>G | |
| XM_011521044.2:c.501+3A>G (GPC6) | XP_011519346.1:n.501+3A>G | |
| XM_017020298.1:c.501+3A>G (GPC6) | XP_016875787.1:n.501+3A>G | |
| XM_017020299.2:c.501+3A>G (GPC6) | XP_016875788.1:n.501+3A>G | |
| XM_017020300.1:c.501+3A>G (GPC6) | XP_016875789.1:n.501+3A>G | |
| XM_017020301.1:c.345+3A>G (GPC6) | XP_016875790.1:n.345+3A>G | |
| NM_005708.5:c.711+3A>G (GPC6) MANE Select | NP_005699.1:n.711+3A>G |