Linked Data
dbSNP Id:
rs17231212
gnomAD v2:
7-134785741-T-C
gnomAD v3:
7-135100989-T-C
gnomAD v4:
7-135100989-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.135100989T>C , CM000669.2:g.135100989T>C | GRCh38 |
| NC_000007.13:g.134785741T>C , CM000669.1:g.134785741T>C | GRCh37 |
| NC_000007.12:g.134436281T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000275763.10:c.*378-14391T>C (AGBL3) | ENSP00000275763.6:n.*378-14391T>C | |
| ENST00000435976.6:c.2110+19199T>C (AGBL3) | ENSP00000401220.2:n.2110+19199T>C | |
| ENST00000436302.6:c.2111-14391T>C (AGBL3) MANE Select | ENSP00000388275.2:n.2111-14391T>C | |
| ENST00000459937.5:n.357-6407A>G (CYREN) | ||
| ENST00000464070.1:n.188-6407A>G (CYREN) | ||
| NM_001305630.1:c.175-6407A>G (CYREN) | NP_001292559.1:n.175-6407A>G | |
| NM_178563.3:c.2111-14391T>C (AGBL3) | NP_848658.3:n.2111-14391T>C | |
| NM_001345850.1:c.614-14391T>C (AGBL3) | NP_001332779.1:n.614-14391T>C | |
| NM_001345851.1:c.434-14391T>C (AGBL3) | NP_001332780.1:n.434-14391T>C | |
| NM_001345852.1:c.433+19199T>C (AGBL3) | NP_001332781.1:n.433+19199T>C | |
| NM_001345853.1:c.433+19199T>C (AGBL3) | NP_001332782.1:n.433+19199T>C | |
| NR_144293.1:n.1093+19199T>C (AGBL3) | ||
| XM_017012136.2:c.2111-14391T>C (AGBL3) | XP_016867625.1:n.2111-14391T>C | |
| XM_017012137.2:c.2111-14391T>C (AGBL3) | XP_016867626.1:n.2111-14391T>C | |
| XM_017012138.2:c.2108-14391T>C (AGBL3) | XP_016867627.1:n.2108-14391T>C | |
| XM_017012139.2:c.1931-14391T>C (AGBL3) | XP_016867628.1:n.1931-14391T>C | |
| XM_017012140.2:c.2159+1415T>C (AGBL3) | XP_016867629.1:n.2159+1415T>C | |
| XM_017012141.2:c.1925-14391T>C (AGBL3) | XP_016867630.1:n.1925-14391T>C | |
| XM_017012142.2:c.2111-14391T>C (AGBL3) | XP_016867631.1:n.2111-14391T>C | |
| XM_017012143.2:c.2110+19199T>C (AGBL3) | XP_016867632.1:n.2110+19199T>C | |
| XM_017012595.1:c.*41-6407A>G (CYREN) | XP_016868084.1:n.*41-6407A>G | |
| XM_024446749.1:c.614-14391T>C (AGBL3) | XP_024302517.1:n.614-14391T>C | |
| XM_024446750.1:c.433+19199T>C (AGBL3) | XP_024302518.1:n.433+19199T>C | |
| XR_001744696.2:n.3496-14391T>C (AGBL3) | ||
| XR_001744699.2:n.3383-14391T>C (AGBL3) | ||
| NM_001367814.1:c.232-33852T>C (AGBL3) | NP_001354743.1:n.232-33852T>C | |
| NM_178563.4:c.2111-14391T>C (AGBL3) MANE Select | NP_848658.3:n.2111-14391T>C | |
| NR_160300.1:n.2483-14391T>C (AGBL3) | ||
| NM_001305630.2:c.175-6407A>G (CYREN) | NP_001292559.1:n.175-6407A>G |