Linked Data
dbSNP Id:
rs905417666
gnomAD v2:
22-21242437-A-G
gnomAD v3:
22-20888149-A-G
gnomAD v4:
22-20888149-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888149A>G , CM000684.2:g.20888149A>G | GRCh38 |
| NC_000022.10:g.21242437A>G , CM000684.1:g.21242437A>G | GRCh37 |
| NC_000022.9:g.19572437A>G | NCBI36 |
| NG_012152.1:g.34146A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*313A>G MANE Select | ENSP00000215730.6:n.*313A>G | |
| ENST00000215730.11:c.*313A>G | ENSP00000215730.6:n.*313A>G | |
| NM_004782.3:c.*313A>G | NP_004773.1:n.*313A>G | |
| NM_004782.4:c.*313A>G MANE Select | NP_004773.1:n.*313A>G |