Linked Data
dbSNP Id:
rs114807814
gnomAD v2:
22-32880546-T-G
gnomAD v3:
22-32484559-T-G
gnomAD v4:
22-32484559-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32484559T>G , CM000684.2:g.32484559T>G | GRCh38 |
| NC_000022.10:g.32880546T>G , CM000684.1:g.32880546T>G | GRCh37 |
| NC_000022.9:g.31210546T>G | NCBI36 |
| NG_016001.1:g.14840T>G | |
| NG_016001.2:g.14840T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.645+435T>G MANE Select | ENSP00000266087.7:n.645+435T>G | |
| ENST00000266087.11:c.645+435T>G | ENSP00000266087.7:n.645+435T>G | |
| ENST00000397426.5:c.303+435T>G | ENSP00000380571.1:n.303+435T>G | |
| ENST00000420700.5:c.*224+435T>G | ENSP00000406155.1:n.*224+435T>G | |
| ENST00000425028.5:c.*343+435T>G | ENSP00000395823.1:n.*343+435T>G | |
| ENST00000452138.3:c.408+435T>G | ENSP00000388547.2:n.408+435T>G | |
| ENST00000492535.1:n.481+435T>G | ||
| NM_001033024.1:c.408+435T>G | NP_001028196.1:n.408+435T>G | |
| NM_001257990.1:c.303+435T>G | NP_001244919.1:n.303+435T>G | |
| NM_012179.3:c.645+435T>G | NP_036311.3:n.645+435T>G | |
| XM_011530106.1:c.177+435T>G | XP_011528408.1:n.177+435T>G | |
| XM_024452207.1:c.303+435T>G | XP_024307975.1:n.303+435T>G | |
| NM_012179.4:c.645+435T>G MANE Select | NP_036311.3:n.645+435T>G | |
| NM_001033024.2:c.408+435T>G | NP_001028196.1:n.408+435T>G | |
| NM_001257990.2:c.303+435T>G | NP_001244919.1:n.303+435T>G |