Linked Data
dbSNP Id:
rs575600236
ExAC:
3:33138519 G / C
gnomAD v2:
3-33138519-G-C
gnomAD v4:
3-33097027-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33097027G>C , CM000665.2:g.33097027G>C | GRCh38 |
| NC_000003.11:g.33138519G>C , CM000665.1:g.33138519G>C | GRCh37 |
| NC_000003.10:g.33113523G>C | NCBI36 |
| NG_009005.1:g.5176C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.59C>G (GLB1) MANE Select | ENSP00000306920.4:p.Pro20Arg | |
| ENST00000342462.5:c.-417C>G (TMPPE) MANE Select | ENSP00000343398.4:n.-417C>G | |
| ENST00000307363.9:c.59C>G (GLB1) | ENSP00000306920.4:p.Pro20Arg | |
| ENST00000307377.12:c.59C>G (GLB1) | ENSP00000305920.8:p.Pro20Arg | |
| ENST00000415454.1:c.59C>G (GLB1) | ENSP00000411813.1:p.Pro20Arg | |
| ENST00000436768.1:c.59C>G (GLB1) | ENSP00000387989.1:p.Pro20Arg | |
| ENST00000438227.1:c.59C>G (GLB1) | ENSP00000401250.1:p.Pro20Arg | |
| ENST00000440656.1:c.-165C>G (GLB1) | ENSP00000411769.1:n.-165C>G | |
| ENST00000464355.1:n.17C>G (GLB1) | ||
| ENST00000482097.5:n.92C>G (GLB1) | ||
| ENST00000485698.5:n.120C>G (GLB1) | ||
| ENST00000498537.5:n.116C>G (GLB1) | ||
| NM_000404.2:c.59C>G (GLB1) | NP_000395.2:p.Pro20Arg | |
| NM_000404.3:c.59C>G (GLB1) | NP_000395.2:p.Pro20Arg | |
| NM_001135602.1:c.59C>G (GLB1) | NP_001129074.1:p.Pro20Arg | |
| NM_001135602.2:c.59C>G (GLB1) | NP_001129074.1:p.Pro20Arg | |
| NM_001317040.1:c.59C>G (GLB1) | NP_001303969.1:p.Pro20Arg | |
| NM_000404.4:c.59C>G (GLB1) MANE Select | NP_000395.3:p.Pro20Arg | |
| NM_001039770.3:c.-417C>G (TMPPE) MANE Select | NP_001034859.2:n.-417C>G | |
| NM_001136238.2:c.-313C>G (TMPPE) | NP_001129710.1:n.-313C>G | |
| NM_001135602.3:c.59C>G (GLB1) | NP_001129074.2:p.Pro20Arg | |
| NM_001317040.2:c.59C>G (GLB1) | NP_001303969.2:p.Pro20Arg | |
| NM_001393580.1:c.59C>G (GLB1) | NP_001380509.1:p.Pro20Arg |