Linked Data
dbSNP Id:
rs11903757
gnomAD v2:
2-192587204-T-C
gnomAD v3:
2-191722478-T-C
gnomAD v4:
2-191722478-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.191722478T>C , CM000664.2:g.191722478T>C | GRCh38 |
| NC_000002.11:g.192587204T>C , CM000664.1:g.192587204T>C | GRCh37 |
| NC_000002.10:g.192295449T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674262.1:c.*7815+12695T>C | ENSP00000501487.1:n.*7815+12695T>C | |
| ENST00000674360.1:c.*7649-13438T>C | ENSP00000501480.1:n.*7649-13438T>C | |
| ENST00000674406.1:c.*7815+12695T>C | ENSP00000501496.1:n.*7815+12695T>C | |
| ENST00000674414.1:c.*7649-13438T>C | ENSP00000501415.1:n.*7649-13438T>C |