Linked Data
ClinVar Variation Id:
92913
dbSNP Id:
rs398123358
ExAC:
3:33138502 C / G
gnomAD v2:
3-33138502-C-G
gnomAD v3:
3-33097010-C-G
gnomAD v4:
3-33097010-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33097010C>G , CM000665.2:g.33097010C>G | GRCh38 |
| NC_000003.11:g.33138502C>G , CM000665.1:g.33138502C>G | GRCh37 |
| NC_000003.10:g.33113506C>G | NCBI36 |
| NG_009005.1:g.5193G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307363.10:c.75+1G>C (GLB1) MANE Select | ENSP00000306920.4:n.75+1G>C | |
| ENST00000342462.5:c.-400G>C (TMPPE) MANE Select | ENSP00000343398.4:n.-400G>C | |
| ENST00000307363.9:c.75+1G>C (GLB1) | ENSP00000306920.4:n.75+1G>C | |
| ENST00000307377.12:c.75+1G>C (GLB1) | ENSP00000305920.8:n.75+1G>C | |
| ENST00000415454.1:c.75+1G>C (GLB1) | ENSP00000411813.1:n.75+1G>C | |
| ENST00000436768.1:c.75+1G>C (GLB1) | ENSP00000387989.1:n.75+1G>C | |
| ENST00000438227.1:c.75+1G>C (GLB1) | ENSP00000401250.1:n.75+1G>C | |
| ENST00000440656.1:c.-149+1G>C (GLB1) | ENSP00000411769.1:n.-149+1G>C | |
| ENST00000464355.1:n.33+1G>C (GLB1) | ||
| ENST00000482097.5:n.108+1G>C (GLB1) | ||
| ENST00000485698.5:n.136+1G>C (GLB1) | ||
| ENST00000498537.5:n.132+1G>C (GLB1) | ||
| NM_000404.2:c.75+1G>C (GLB1) | NP_000395.2:n.75+1G>C | |
| NM_000404.3:c.75+1G>C (GLB1) | NP_000395.2:n.75+1G>C | |
| NM_001135602.1:c.75+1G>C (GLB1) | NP_001129074.1:n.75+1G>C | |
| NM_001135602.2:c.75+1G>C (GLB1) | NP_001129074.1:n.75+1G>C | |
| NM_001317040.1:c.75+1G>C (GLB1) | NP_001303969.1:n.75+1G>C | |
| NM_000404.4:c.75+1G>C (GLB1) MANE Select | NP_000395.3:n.75+1G>C | |
| NM_001039770.3:c.-400G>C (TMPPE) MANE Select | NP_001034859.2:n.-400G>C | |
| NM_001136238.2:c.-296G>C (TMPPE) | NP_001129710.1:n.-296G>C | |
| NM_001135602.3:c.75+1G>C (GLB1) | NP_001129074.2:n.75+1G>C | |
| NM_001317040.2:c.75+1G>C (GLB1) | NP_001303969.2:n.75+1G>C | |
| NM_001393580.1:c.75+1G>C (GLB1) | NP_001380509.1:n.75+1G>C |