Linked Data
dbSNP Id:
rs1229777388
gnomAD v2:
13-94482867-A-T
gnomAD v3:
13-93830614-A-T
gnomAD v4:
13-93830614-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.93830614A>T , CM000675.2:g.93830614A>T | GRCh38 |
| NC_000013.10:g.94482867A>T , CM000675.1:g.94482867A>T | GRCh37 |
| NC_000013.9:g.93280868A>T | NCBI36 |
| NG_011880.1:g.608790A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377047.9:c.711+69A>T (GPC6) MANE Select | ENSP00000366246.3:n.711+69A>T | |
| ENST00000377047.8:c.711+69A>T (GPC6) | ENSP00000366246.3:n.711+69A>T | |
| NM_005708.3:c.711+69A>T (GPC6) | NP_005699.1:n.711+69A>T | |
| NR_046536.1:n.380+202T>A (GPC6-AS2) | ||
| XM_011521044.1:c.501+69A>T (GPC6) | XP_011519346.1:n.501+69A>T | |
| NM_005708.4:c.711+69A>T (GPC6) | NP_005699.1:n.711+69A>T | |
| XM_011521044.2:c.501+69A>T (GPC6) | XP_011519346.1:n.501+69A>T | |
| XM_017020298.1:c.501+69A>T (GPC6) | XP_016875787.1:n.501+69A>T | |
| XM_017020299.2:c.501+69A>T (GPC6) | XP_016875788.1:n.501+69A>T | |
| XM_017020300.1:c.501+69A>T (GPC6) | XP_016875789.1:n.501+69A>T | |
| XM_017020301.1:c.345+69A>T (GPC6) | XP_016875790.1:n.345+69A>T | |
| NM_005708.5:c.711+69A>T (GPC6) MANE Select | NP_005699.1:n.711+69A>T |