Linked Data
dbSNP Id:
rs1863143614
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13981819G>C , CM000674.2:g.13981819G>C | GRCh38 |
| NC_000012.11:g.14134753G>C , CM000674.1:g.14134753G>C | GRCh37 |
| NC_000012.10:g.14026020G>C | NCBI36 |
| NG_031854.1:g.3270C>G | |
| NG_031854.2:g.5194C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000630791.2:c.-683+97C>G | ENSP00000486677.2:n.-683+97C>G | |
| ENST00000627535.2:c.-448+97C>G | ENSP00000486411.1:n.-448+97C>G | |
| ENST00000630791.1:c.-683+97C>G | ENSP00000486677.1:n.-683+97C>G | |
| XM_011520629.1:c.-683+97C>G | XP_011518931.1:n.-683+97C>G | |
| XM_011520628.2:c.-925C>G | XP_011518930.1:n.-925C>G | |
| XM_011520629.2:c.-683+97C>G | XP_011518931.1:n.-683+97C>G |