Linked Data
dbSNP Id:
rs1481293603
gnomAD v2:
3-33138281-A-T
gnomAD v3:
3-33096789-A-T
gnomAD v4:
3-33096789-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33096789A>T , CM000665.2:g.33096789A>T | GRCh38 |
| NC_000003.11:g.33138281A>T , CM000665.1:g.33138281A>T | GRCh37 |
| NC_000003.10:g.33113285A>T | NCBI36 |
| NG_009005.1:g.5414T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.75+222T>A (GLB1) MANE Select | ENSP00000306920.4:n.75+222T>A | |
| ENST00000342462.5:c.-179T>A (TMPPE) MANE Select | ENSP00000343398.4:n.-179T>A | |
| ENST00000307363.9:c.75+222T>A (GLB1) | ENSP00000306920.4:n.75+222T>A | |
| ENST00000307377.12:c.75+222T>A (GLB1) | ENSP00000305920.8:n.75+222T>A | |
| ENST00000342462.4:c.-179T>A (TMPPE) | ENSP00000343398.4:n.-179T>A | |
| ENST00000399402.7:c.-86T>A (GLB1) | ENSP00000382333.2:n.-86T>A | |
| ENST00000415454.1:c.75+222T>A (GLB1) | ENSP00000411813.1:n.75+222T>A | |
| ENST00000416695.6:c.-75T>A (TMPPE) | ENSP00000400715.2:n.-75T>A | |
| ENST00000436768.1:c.75+222T>A (GLB1) | ENSP00000387989.1:n.75+222T>A | |
| ENST00000438227.1:c.75+222T>A (GLB1) | ENSP00000401250.1:n.75+222T>A | |
| ENST00000440656.1:c.-149+222T>A (GLB1) | ENSP00000411769.1:n.-149+222T>A | |
| ENST00000450835.1:c.-230T>A (GLB1) | ENSP00000403264.1:n.-230T>A | |
| ENST00000464355.1:n.33+222T>A (GLB1) | ||
| ENST00000482097.5:n.108+222T>A (GLB1) | ||
| ENST00000485698.5:n.136+222T>A (GLB1) | ||
| ENST00000498537.5:n.132+222T>A (GLB1) | ||
| NM_000404.2:c.75+222T>A (GLB1) | NP_000395.2:n.75+222T>A | |
| NM_000404.3:c.75+222T>A (GLB1) | NP_000395.2:n.75+222T>A | |
| NM_001039770.2:c.-179T>A (TMPPE) | NP_001034859.2:n.-179T>A | |
| NM_001079811.1:c.-86T>A (GLB1) | NP_001073279.1:n.-86T>A | |
| NM_001079811.2:c.-86T>A (GLB1) | NP_001073279.1:n.-86T>A | |
| NM_001135602.1:c.75+222T>A (GLB1) | NP_001129074.1:n.75+222T>A | |
| NM_001135602.2:c.75+222T>A (GLB1) | NP_001129074.1:n.75+222T>A | |
| NM_001136238.1:c.-75T>A (TMPPE) | NP_001129710.1:n.-75T>A | |
| NM_001317040.1:c.75+222T>A (GLB1) | NP_001303969.1:n.75+222T>A | |
| NM_000404.4:c.75+222T>A (GLB1) MANE Select | NP_000395.3:n.75+222T>A | |
| NM_001039770.3:c.-179T>A (TMPPE) MANE Select | NP_001034859.2:n.-179T>A | |
| NM_001136238.2:c.-75T>A (TMPPE) | NP_001129710.1:n.-75T>A | |
| NM_001079811.3:c.-86T>A (GLB1) | NP_001073279.2:n.-86T>A | |
| NM_001135602.3:c.75+222T>A (GLB1) | NP_001129074.2:n.75+222T>A | |
| NM_001317040.2:c.75+222T>A (GLB1) | NP_001303969.2:n.75+222T>A | |
| NM_001393580.1:c.75+222T>A (GLB1) | NP_001380509.1:n.75+222T>A |