Linked Data
dbSNP Id:
rs765947220
ExAC:
22:32500848 C / G
gnomAD v2:
22-32500848-C-G
gnomAD v4:
22-32104861-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32104861C>G , CM000684.2:g.32104861C>G | GRCh38 |
| NC_000022.10:g.32500848C>G , CM000684.1:g.32500848C>G | GRCh37 |
| NC_000022.9:g.30830848C>G | NCBI36 |
| NG_017045.1:g.66830C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.1741C>G MANE Select | ENSP00000266088.4:p.Gln581Glu | |
| ENST00000266088.8:c.1741C>G | ENSP00000266088.4:p.Gln581Glu | |
| ENST00000543737.2:c.1360C>G | ENSP00000444898.1:p.Gln454Glu | |
| NM_000343.3:c.1741C>G | NP_000334.1:p.Gln581Glu | |
| NM_001256314.1:c.1360C>G | NP_001243243.1:p.Gln454Glu | |
| XR_938173.1:n.591+1977G>C | ||
| XR_938174.1:n.486+14994G>C | ||
| NM_000343.4:c.1741C>G MANE Select | NP_000334.1:p.Gln581Glu | |
| NM_001256314.2:c.1360C>G | NP_001243243.1:p.Gln454Glu |