Linked Data
dbSNP Id:
rs1307590999
gnomAD v2:
22-51135826-C-G
gnomAD v3:
22-50697398-C-G
gnomAD v4:
22-50697398-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697398C>G , CM000684.2:g.50697398C>G | GRCh38 |
| NC_000022.10:g.51135826C>G , CM000684.1:g.51135826C>G | GRCh37 |
| NC_000022.9:g.49482692C>G | NCBI36 |
| NG_008607.2:g.27757C>G | |
| NG_070230.1:g.32976C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-166C>G | ENSP00000489147.2:n.948-166C>G | |
| ENST00000414786.7:n.1532-166C>G | ||
| ENST00000673971.2:c.1305-166C>G | ENSP00000501192.1:n.1305-166C>G | |
| ENST00000262795.6:c.948-166C>G | ENSP00000489147.2:n.948-166C>G | |
| ENST00000673971.1:c.1305-166C>G | ENSP00000501192.1:n.1305-166C>G | |
| ENST00000262795.5:c.1344+131C>G | ENSP00000489147.1:n.1344+131C>G | |
| ENST00000414786.6:n.1532-166C>G | ||
| ENST00000445220.5:c.1326-166C>G | ENSP00000489407.1:n.1326-166C>G |