Linked Data
dbSNP Id:
rs10084630
gnomAD v2:
22-37679487-C-T
gnomAD v3:
22-37283446-C-T
gnomAD v4:
22-37283446-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37283446C>T , CM000684.2:g.37283446C>T | GRCh38 |
| NC_000022.10:g.37679487C>T , CM000684.1:g.37679487C>T | GRCh37 |
| NC_000022.9:g.36009433C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248901.11:c.19+858C>T MANE Select | ENSP00000248901.6:n.19+858C>T | |
| ENST00000248901.10:c.19+858C>T | ENSP00000248901.6:n.19+858C>T | |
| ENST00000402997.5:c.19+858C>T | ENSP00000385997.1:n.19+858C>T | |
| ENST00000405206.3:c.19+858C>T | ENSP00000384280.3:n.19+858C>T | |
| ENST00000439667.1:n.58+858C>T | ||
| ENST00000457992.5:c.19+858C>T | ENSP00000405442.1:n.19+858C>T | |
| ENST00000462927.5:n.64+858C>T | ||
| ENST00000469886.5:n.74+858C>T | ||
| ENST00000480510.5:n.62+858C>T | ||
| NM_013385.3:c.19+858C>T | NP_037517.1:n.19+858C>T | |
| XM_011530148.1:c.-646+858C>T | XP_011528450.1:n.-646+858C>T | |
| XR_430406.2:n.135+858C>T | ||
| NM_001318024.1:c.-172+858C>T | NP_001304953.1:n.-172+858C>T | |
| NM_013385.4:c.19+858C>T | NP_037517.1:n.19+858C>T | |
| XM_011530148.2:c.-646+858C>T | XP_011528450.1:n.-646+858C>T | |
| XR_001755214.2:n.116+858C>T | ||
| NM_013385.5:c.19+858C>T MANE Select | NP_037517.1:n.19+858C>T | |
| NM_001318024.2:c.-172+858C>T | NP_001304953.1:n.-172+858C>T |