Linked Data
dbSNP Id:
rs1163092214
gnomAD v3:
22-50697524-C-G
gnomAD v4:
22-50697524-C-G
MyVariant Identifiers:
chr22:g.51135952C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697524C>G , CM000684.2:g.50697524C>G | GRCh38 |
| NC_000022.10:g.51135952C>G , CM000684.1:g.51135952C>G | GRCh37 |
| NC_000022.9:g.49482818C>G | NCBI36 |
| NG_008607.2:g.27883C>G | |
| NG_070230.1:g.33102C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-40C>G | ENSP00000489147.2:n.948-40C>G | |
| ENST00000414786.7:n.1532-40C>G | ||
| ENST00000673971.2:c.1305-40C>G | ENSP00000501192.1:n.1305-40C>G | |
| ENST00000262795.6:c.948-40C>G | ENSP00000489147.2:n.948-40C>G | |
| ENST00000673971.1:c.1305-40C>G | ENSP00000501192.1:n.1305-40C>G | |
| ENST00000262795.5:c.1345-41C>G | ENSP00000489147.1:n.1345-41C>G | |
| ENST00000414786.6:n.1532-40C>G | ||
| ENST00000445220.5:c.1326-40C>G | ENSP00000489407.1:n.1326-40C>G |