Linked Data
dbSNP Id:
rs2133523801
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086821T>C , CM000673.2:g.112086821T>C | GRCh38 |
| NC_000011.9:g.111957545T>C , CM000673.1:g.111957545T>C | GRCh37 |
| NC_000011.8:g.111462755T>C | NCBI36 |
| NG_012337.2:g.4975T>C | |
| NG_033145.1:g.4978A>G | |
| NG_012337.3:g.4975T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375549.7:c.-87T>C | ENSP00000364699.3:n.-87T>C |