Linked Data
dbSNP Id:
rs191470413
gnomAD v2:
5-156486438-G-C
gnomAD v3:
5-157059427-G-C
gnomAD v4:
5-157059427-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157059427G>C , CM000667.2:g.157059427G>C | GRCh38 |
| NC_000005.9:g.156486438G>C , CM000667.1:g.156486438G>C | GRCh37 |
| NC_000005.8:g.156419016G>C | NCBI36 |
| NG_017001.1:g.4533C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699093.1:c.-12-1472C>G | ENSP00000514125.1:n.-12-1472C>G | |
| XM_011534511.1:c.-133-1351C>G | XP_011532813.1:n.-133-1351C>G | |
| XM_011534513.1:c.-12-1472C>G | XP_011532815.1:n.-12-1472C>G | |
| XM_024446020.1:c.-136-1348C>G | XP_024301788.1:n.-136-1348C>G | |
| XM_024446021.1:c.-133-1351C>G | XP_024301789.1:n.-133-1351C>G | |
| XM_024446023.1:c.-12-1472C>G | XP_024301791.1:n.-12-1472C>G |