Linked Data
ClinVar Variation Id:
2726677
ClinVar RCV Id:
RCV003506322
dbSNP Id:
rs944559473
gnomAD v2:
22-32871124-C-T
gnomAD v3:
22-32475137-C-T
gnomAD v4:
22-32475137-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475137C>T , CM000684.2:g.32475137C>T | GRCh38 |
| NC_000022.10:g.32871124C>T , CM000684.1:g.32871124C>T | GRCh37 |
| NC_000022.9:g.31201124C>T | NCBI36 |
| NG_016001.1:g.5418C>T | |
| NG_016001.2:g.5418C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.122+13C>T MANE Select | ENSP00000266087.7:n.122+13C>T | |
| ENST00000266087.11:c.122+13C>T | ENSP00000266087.7:n.122+13C>T | |
| ENST00000420700.5:c.122+13C>T | ENSP00000406155.1:n.122+13C>T | |
| ENST00000425028.5:c.122+13C>T | ENSP00000395823.1:n.122+13C>T | |
| ENST00000492535.1:n.110+13C>T | ||
| NM_012179.3:c.122+13C>T | NP_036311.3:n.122+13C>T | |
| XM_011530106.1:c.-52+13C>T | XP_011528408.1:n.-52+13C>T | |
| XM_024452207.1:c.-69+13C>T | XP_024307975.1:n.-69+13C>T | |
| NM_012179.4:c.122+13C>T MANE Select | NP_036311.3:n.122+13C>T |