Linked Data
dbSNP Id:
rs918257707
gnomAD v2:
22-32880496-C-T
gnomAD v3:
22-32484509-C-T
gnomAD v4:
22-32484509-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32484509C>T , CM000684.2:g.32484509C>T | GRCh38 |
| NC_000022.10:g.32880496C>T , CM000684.1:g.32880496C>T | GRCh37 |
| NC_000022.9:g.31210496C>T | NCBI36 |
| NG_016001.1:g.14790C>T | |
| NG_016001.2:g.14790C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.645+385C>T MANE Select | ENSP00000266087.7:n.645+385C>T | |
| ENST00000266087.11:c.645+385C>T | ENSP00000266087.7:n.645+385C>T | |
| ENST00000397426.5:c.303+385C>T | ENSP00000380571.1:n.303+385C>T | |
| ENST00000420700.5:c.*224+385C>T | ENSP00000406155.1:n.*224+385C>T | |
| ENST00000425028.5:c.*343+385C>T | ENSP00000395823.1:n.*343+385C>T | |
| ENST00000452138.3:c.408+385C>T | ENSP00000388547.2:n.408+385C>T | |
| ENST00000492535.1:n.481+385C>T | ||
| NM_001033024.1:c.408+385C>T | NP_001028196.1:n.408+385C>T | |
| NM_001257990.1:c.303+385C>T | NP_001244919.1:n.303+385C>T | |
| NM_012179.3:c.645+385C>T | NP_036311.3:n.645+385C>T | |
| XM_011530106.1:c.177+385C>T | XP_011528408.1:n.177+385C>T | |
| XM_024452207.1:c.303+385C>T | XP_024307975.1:n.303+385C>T | |
| NM_012179.4:c.645+385C>T MANE Select | NP_036311.3:n.645+385C>T | |
| NM_001033024.2:c.408+385C>T | NP_001028196.1:n.408+385C>T | |
| NM_001257990.2:c.303+385C>T | NP_001244919.1:n.303+385C>T |