Linked Data
dbSNP Id:
rs143536437
gnomAD v2:
15-30898332-C-G
gnomAD v3:
15-30606129-C-G
gnomAD v4:
15-30606129-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.30606129C>G , CM000677.2:g.30606129C>G | GRCh38 |
| NC_000015.9:g.30898332C>G , CM000677.1:g.30898332C>G | GRCh37 |
| NC_000015.8:g.28685624C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000566740.2:c.168+167C>G (GOLGA8H) MANE Select | ENSP00000456894.1:n.168+167C>G | |
| ENST00000566740.1:c.168+167C>G (GOLGA8H) | ENSP00000456894.1:n.168+167C>G | |
| NM_001282490.1:c.168+167C>G (GOLGA8H) | NP_001269419.1:n.168+167C>G | |
| XM_006720672.2:c.129+167C>G (GOLGA8H) | XP_006720735.1:n.129+167C>G | |
| XM_011521990.1:c.-286+167C>G (GOLGA8H) | XP_011520292.1:n.-286+167C>G | |
| XM_011522274.1:c.-308+2089G>C (DNM1P50) | XP_011520576.1:n.-308+2089G>C | |
| XM_011522275.1:c.-308+2089G>C (DNM1P50) | XP_011520577.1:n.-308+2089G>C | |
| XM_011522276.1:c.-308+2089G>C (DNM1P50) | XP_011520578.1:n.-308+2089G>C | |
| XM_011522278.1:c.-308+2089G>C (DNM1P50) | XP_011520580.1:n.-308+2089G>C | |
| XM_011522282.1:c.209+2089G>C (DNM1P50) | XP_011520584.1:n.209+2089G>C | |
| XM_011522283.1:c.209+2089G>C (DNM1P50) | XP_011520585.1:n.209+2089G>C | |
| XR_932037.1:n.1044+2089G>C (DNM1P50) | ||
| XR_932039.1:n.1166+2089G>C (DNM1P50) | ||
| XR_932042.1:n.786+2089G>C (DNM1P50) | ||
| XR_932043.1:n.707+18922G>C (DNM1P50) | ||
| XR_932044.1:n.708-11837G>C (DNM1P50) | ||
| XR_932045.1:n.707+18922G>C (DNM1P50) | ||
| NR_157593.1:n.851-11837G>C (ARHGAP11B-DT) | ||
| NR_157594.1:n.849+2089G>C (ARHGAP11B-DT) | ||
| NR_157595.1:n.513-11837G>C (ARHGAP11B-DT) | ||
| NM_001282490.2:c.168+167C>G (GOLGA8H) MANE Select | NP_001269419.1:n.168+167C>G |