Linked Data
dbSNP Id:
rs1677001212
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75565125T>G , CM000664.2:g.75565125T>G | GRCh38 |
| NC_000002.11:g.75792251T>G , CM000664.1:g.75792251T>G | GRCh37 |
| NC_000002.10:g.75645759T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233712.5:c.-192+4351A>C | ENSP00000233712.1:n.-192+4351A>C | |
| ENST00000486696.1:n.223+4351A>C | ||
| NM_032181.2:c.-192+4351A>C | NP_115557.1:n.-192+4351A>C | |
| NM_032181.3:c.-192+4351A>C | NP_115557.1:n.-192+4351A>C |