Linked Data
dbSNP Id:
rs748158898
ExAC:
22:45689207 C / T
gnomAD v2:
22-45689207-C-T
gnomAD v3:
22-45293326-C-T
gnomAD v4:
22-45293326-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293326C>T , CM000684.2:g.45293326C>T | GRCh38 |
| NC_000022.10:g.45689207C>T , CM000684.1:g.45689207C>T | GRCh37 |
| NC_000022.9:g.44067871C>T | NCBI36 |
| NG_016203.1:g.13340C>T | |
| NG_016203.2:g.13340C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.704+13C>T MANE Select | ENSP00000216211.4:n.704+13C>T | |
| ENST00000216211.8:c.704+13C>T | ENSP00000216211.4:n.704+13C>T | |
| ENST00000396082.2:c.341+13C>T | ENSP00000379391.2:n.341+13C>T | |
| NM_001167574.1:c.341+13C>T | NP_001161046.1:n.341+13C>T | |
| NM_006953.3:c.704+13C>T | NP_008884.1:n.704+13C>T | |
| XM_011530364.1:c.710+13C>T | XP_011528666.1:n.710+13C>T | |
| XM_011530365.1:c.347+13C>T | XP_011528667.1:n.347+13C>T | |
| NM_006953.4:c.704+13C>T MANE Select | NP_008884.1:n.704+13C>T | |
| NM_001167574.2:c.341+13C>T | NP_001161046.1:n.341+13C>T |