Linked Data
dbSNP Id:
rs1002982967
gnomAD v2:
15-30898353-C-A
gnomAD v3:
15-30606150-C-A
gnomAD v4:
15-30606150-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.30606150C>A , CM000677.2:g.30606150C>A | GRCh38 |
| NC_000015.9:g.30898353C>A , CM000677.1:g.30898353C>A | GRCh37 |
| NC_000015.8:g.28685645C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000566740.2:c.168+188C>A (GOLGA8H) MANE Select | ENSP00000456894.1:n.168+188C>A | |
| ENST00000566740.1:c.168+188C>A (GOLGA8H) | ENSP00000456894.1:n.168+188C>A | |
| NM_001282490.1:c.168+188C>A (GOLGA8H) | NP_001269419.1:n.168+188C>A | |
| XM_006720672.2:c.129+188C>A (GOLGA8H) | XP_006720735.1:n.129+188C>A | |
| XM_011521990.1:c.-286+188C>A (GOLGA8H) | XP_011520292.1:n.-286+188C>A | |
| XM_011522274.1:c.-308+2068G>T (DNM1P50) | XP_011520576.1:n.-308+2068G>T | |
| XM_011522275.1:c.-308+2068G>T (DNM1P50) | XP_011520577.1:n.-308+2068G>T | |
| XM_011522276.1:c.-308+2068G>T (DNM1P50) | XP_011520578.1:n.-308+2068G>T | |
| XM_011522278.1:c.-308+2068G>T (DNM1P50) | XP_011520580.1:n.-308+2068G>T | |
| XM_011522282.1:c.209+2068G>T (DNM1P50) | XP_011520584.1:n.209+2068G>T | |
| XM_011522283.1:c.209+2068G>T (DNM1P50) | XP_011520585.1:n.209+2068G>T | |
| XR_932037.1:n.1044+2068G>T (DNM1P50) | ||
| XR_932039.1:n.1166+2068G>T (DNM1P50) | ||
| XR_932042.1:n.786+2068G>T (DNM1P50) | ||
| XR_932043.1:n.707+18901G>T (DNM1P50) | ||
| XR_932044.1:n.708-11858G>T (DNM1P50) | ||
| XR_932045.1:n.707+18901G>T (DNM1P50) | ||
| NR_157593.1:n.851-11858G>T (ARHGAP11B-DT) | ||
| NR_157594.1:n.849+2068G>T (ARHGAP11B-DT) | ||
| NR_157595.1:n.513-11858G>T (ARHGAP11B-DT) | ||
| NM_001282490.2:c.168+188C>A (GOLGA8H) MANE Select | NP_001269419.1:n.168+188C>A |