Linked Data
ClinVar Variation Id:
128217
dbSNP Id:
rs587780264
gnomAD v2:
4-84383713-T-C
gnomAD v3:
4-83462560-T-C
gnomAD v4:
4-83462560-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.83462560T>C , CM000666.2:g.83462560T>C | GRCh38 |
| NC_000004.11:g.84383713T>C , CM000666.1:g.84383713T>C | GRCh37 |
| NC_000004.10:g.84602737T>C | NCBI36 |
| NG_051599.1:g.27619A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321945.12:c.1139A>G (ABRAXAS1) MANE Select | ENSP00000369857.3:p.Asp380Gly | |
| ENST00000321945.11:c.1139A>G (ABRAXAS1) | ENSP00000369857.3:p.Asp380Gly | |
| ENST00000475656.6:c.*847A>G (ABRAXAS1) | ENSP00000426080.1:n.*847A>G | |
| ENST00000504777.1:n.1413A>G (ABRAXAS1) | ||
| ENST00000506553.5:c.992A>G (ABRAXAS1) | ENSP00000426763.1:p.Asp331Gly | |
| ENST00000509571.1:n.41+1327T>C (MRPS18C) | ||
| ENST00000509970.5:c.376+1327T>C (MRPS18C) | ||
| NM_139076.2:c.1139A>G (ABRAXAS1) | NP_620775.2:p.Asp380Gly | |
| XM_005263280.3:c.992A>G (ABRAXAS1) | XP_005263337.1:p.Asp331Gly | |
| XM_005263281.3:c.878A>G (ABRAXAS1) | XP_005263338.1:p.Asp293Gly | |
| XM_011532318.1:c.674A>G (ABRAXAS1) | XP_011530620.1:p.Asp225Gly | |
| NM_001345962.1:c.812A>G (ABRAXAS1) | NP_001332891.1:p.Asp271Gly | |
| XM_005263280.5:c.992A>G (ABRAXAS1) | XP_005263337.1:p.Asp331Gly | |
| NM_139076.3:c.1139A>G (ABRAXAS1) MANE Select | NP_620775.2:p.Asp380Gly | |
| NM_001345962.2:c.812A>G (ABRAXAS1) | NP_001332891.1:p.Asp271Gly |