Linked Data
dbSNP Id:
rs1948095574
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118304588G>C , CM000673.2:g.118304588G>C | GRCh38 |
| NC_000011.9:g.118175303G>C , CM000673.1:g.118175303G>C | GRCh37 |
| NC_000011.8:g.117680513G>C | NCBI36 |
| NG_007383.1:g.5009G>C , LRG_38:g.5009G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.8:c.-248G>C | ENSP00000354566.4:n.-248G>C | |
| NM_000733.3:c.-248G>C , LRG_38t1:c.-248G>C | NP_000724.1:n.-248G>C |