Linked Data
dbSNP Id:
rs2117206611
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11491646A>C , CM000670.2:g.11491646A>C | GRCh38 |
| NC_000008.10:g.11349155A>C , CM000670.1:g.11349155A>C | GRCh37 |
| NC_000008.9:g.11386564A>C | NCBI36 |
| NG_023543.1:g.2635A>C | |
| NG_023543.2:g.2635A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.274+4479A>C | ||
| ENST00000696154.1:c.-91+4479A>C | ENSP00000512445.1:n.-91+4479A>C | |
| ENST00000645242.1:c.-91+4479A>C | ENSP00000494690.1:n.-91+4479A>C |