Linked Data
dbSNP Id:
rs773622681
ExAC:
22:45689117 C / G
gnomAD v2:
22-45689117-C-G
gnomAD v4:
22-45293236-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293236C>G , CM000684.2:g.45293236C>G | GRCh38 |
| NC_000022.10:g.45689117C>G , CM000684.1:g.45689117C>G | GRCh37 |
| NC_000022.9:g.44067781C>G | NCBI36 |
| NG_016203.1:g.13250C>G | |
| NG_016203.2:g.13250C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.627C>G MANE Select | ENSP00000216211.4:p.Ile209Met | |
| ENST00000216211.8:c.627C>G | ENSP00000216211.4:p.Ile209Met | |
| ENST00000396082.2:c.264C>G | ENSP00000379391.2:p.Ile88Met | |
| NM_001167574.1:c.264C>G | NP_001161046.1:p.Ile88Met | |
| NM_006953.3:c.627C>G | NP_008884.1:p.Ile209Met | |
| XM_011530364.1:c.633C>G | XP_011528666.1:p.Ile211Met | |
| XM_011530365.1:c.270C>G | XP_011528667.1:p.Ile90Met | |
| NM_006953.4:c.627C>G MANE Select | NP_008884.1:p.Ile209Met | |
| NM_001167574.2:c.264C>G | NP_001161046.1:p.Ile88Met |