Linked Data
dbSNP Id:
rs1863143364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13981815C>G , CM000674.2:g.13981815C>G | GRCh38 |
| NC_000012.11:g.14134749C>G , CM000674.1:g.14134749C>G | GRCh37 |
| NC_000012.10:g.14026016C>G | NCBI36 |
| NG_031854.1:g.3274G>C | |
| NG_031854.2:g.5198G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000630791.2:c.-683+101G>C | ENSP00000486677.2:n.-683+101G>C | |
| ENST00000627535.2:c.-448+101G>C | ENSP00000486411.1:n.-448+101G>C | |
| ENST00000630791.1:c.-683+101G>C | ENSP00000486677.1:n.-683+101G>C | |
| XM_011520629.1:c.-683+101G>C | XP_011518931.1:n.-683+101G>C | |
| XM_011520628.2:c.-921G>C | XP_011518930.1:n.-921G>C | |
| XM_011520629.2:c.-683+101G>C | XP_011518931.1:n.-683+101G>C |