Linked Data
dbSNP Id:
rs1330013399
gnomAD v2:
22-51135799-C-T
gnomAD v3:
22-50697371-C-T
gnomAD v4:
22-50697371-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697371C>T , CM000684.2:g.50697371C>T | GRCh38 |
| NC_000022.10:g.51135799C>T , CM000684.1:g.51135799C>T | GRCh37 |
| NC_000022.9:g.49482665C>T | NCBI36 |
| NG_008607.2:g.27730C>T | |
| NG_070230.1:g.32949C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-193C>T | ENSP00000489147.2:n.948-193C>T | |
| ENST00000414786.7:n.1532-193C>T | ||
| ENST00000673971.2:c.1305-193C>T | ENSP00000501192.1:n.1305-193C>T | |
| ENST00000262795.6:c.948-193C>T | ENSP00000489147.2:n.948-193C>T | |
| ENST00000673971.1:c.1305-193C>T | ENSP00000501192.1:n.1305-193C>T | |
| ENST00000262795.5:c.1344+104C>T | ENSP00000489147.1:n.1344+104C>T | |
| ENST00000414786.6:n.1532-193C>T | ||
| ENST00000445220.5:c.1326-193C>T | ENSP00000489407.1:n.1326-193C>T |