Linked Data
ClinVar Variation Id:
425289
dbSNP Id:
rs77988381
ExAC:
3:33138547 G / C
gnomAD v2:
3-33138547-G-C
gnomAD v3:
3-33097055-G-C
gnomAD v4:
3-33097055-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33097055G>C , CM000665.2:g.33097055G>C | GRCh38 |
| NC_000003.11:g.33138547G>C , CM000665.1:g.33138547G>C | GRCh37 |
| NC_000003.10:g.33113551G>C | NCBI36 |
| NG_009005.1:g.5148C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.31C>G (GLB1) MANE Select | ENSP00000306920.4:p.Leu11Val | |
| ENST00000342462.5:c.-445C>G (TMPPE) MANE Select | ENSP00000343398.4:n.-445C>G | |
| ENST00000307363.9:c.31C>G (GLB1) | ENSP00000306920.4:p.Leu11Val | |
| ENST00000307377.12:c.31C>G (GLB1) | ENSP00000305920.8:p.Leu11Val | |
| ENST00000415454.1:c.31C>G (GLB1) | ENSP00000411813.1:p.Leu11Val | |
| ENST00000436768.1:c.31C>G (GLB1) | ENSP00000387989.1:p.Leu11Val | |
| ENST00000438227.1:c.31C>G (GLB1) | ENSP00000401250.1:p.Leu11Val | |
| ENST00000440656.1:c.-193C>G (GLB1) | ENSP00000411769.1:n.-193C>G | |
| ENST00000482097.5:n.64C>G (GLB1) | ||
| ENST00000485698.5:n.92C>G (GLB1) | ||
| ENST00000498537.5:n.88C>G (GLB1) | ||
| NM_000404.2:c.31C>G (GLB1) | NP_000395.2:p.Leu11Val | |
| NM_000404.3:c.31C>G (GLB1) | NP_000395.2:p.Leu11Val | |
| NM_001135602.1:c.31C>G (GLB1) | NP_001129074.1:p.Leu11Val | |
| NM_001135602.2:c.31C>G (GLB1) | NP_001129074.1:p.Leu11Val | |
| NM_001317040.1:c.31C>G (GLB1) | NP_001303969.1:p.Leu11Val | |
| NM_000404.4:c.31C>G (GLB1) MANE Select | NP_000395.3:p.Leu11Val | |
| NM_001039770.3:c.-445C>G (TMPPE) MANE Select | NP_001034859.2:n.-445C>G | |
| NM_001136238.2:c.-341C>G (TMPPE) | NP_001129710.1:n.-341C>G | |
| NM_001135602.3:c.31C>G (GLB1) | NP_001129074.2:p.Leu11Val | |
| NM_001317040.2:c.31C>G (GLB1) | NP_001303969.2:p.Leu11Val | |
| NM_001393580.1:c.31C>G (GLB1) | NP_001380509.1:p.Leu11Val |