Linked Data
ClinVar Variation Id:
902580
dbSNP Id:
rs112177270
ExAC:
22:45689202 C / G
gnomAD v2:
22-45689202-C-G
gnomAD v3:
22-45293321-C-G
gnomAD v4:
22-45293321-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293321C>G , CM000684.2:g.45293321C>G | GRCh38 |
| NC_000022.10:g.45689202C>G , CM000684.1:g.45689202C>G | GRCh37 |
| NC_000022.9:g.44067866C>G | NCBI36 |
| NG_016203.1:g.13335C>G | |
| NG_016203.2:g.13335C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.704+8C>G MANE Select | ENSP00000216211.4:n.704+8C>G | |
| ENST00000216211.8:c.704+8C>G | ENSP00000216211.4:n.704+8C>G | |
| ENST00000396082.2:c.341+8C>G | ENSP00000379391.2:n.341+8C>G | |
| NM_001167574.1:c.341+8C>G | NP_001161046.1:n.341+8C>G | |
| NM_006953.3:c.704+8C>G | NP_008884.1:n.704+8C>G | |
| XM_011530364.1:c.710+8C>G | XP_011528666.1:n.710+8C>G | |
| XM_011530365.1:c.347+8C>G | XP_011528667.1:n.347+8C>G | |
| NM_006953.4:c.704+8C>G MANE Select | NP_008884.1:n.704+8C>G | |
| NM_001167574.2:c.341+8C>G | NP_001161046.1:n.341+8C>G |