Linked Data
dbSNP Id:
rs1894407
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32819259C>G , CM000668.2:g.32819259C>G | GRCh38 |
| NC_000006.11:g.32787036C>G , CM000668.1:g.32787036C>G | GRCh37 |
| NC_000006.10:g.32895014C>G | NCBI36 |
| NG_009793.3:g.24512G>C | |
| NG_012008.1:g.2790G>C | |
| NG_009793.4:g.24512G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648009.1:c.-2+1052G>C | ENSP00000496848.1:n.-2+1052G>C | |
| ENST00000452392.2:c.1933-2307G>C | ENSP00000391806.2:n.1933-2307G>C |