Linked Data
dbSNP Id:
rs1895026682
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60649644G>C , CM000676.2:g.60649644G>C | GRCh38 |
| NC_000014.8:g.61116362G>C , CM000676.1:g.61116362G>C | GRCh37 |
| NC_000014.7:g.60186115G>C | NCBI36 |
| NG_008231.1:g.4794C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553535.2:n.248+2291C>G | ||
| ENST00000554986.2:c.42-3067C>G | ENSP00000452700.2:n.42-3067C>G | |
| ENST00000555955.3:n.1197+2291C>G |