Linked Data
dbSNP Id:
rs2093760141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2340783C>G , CM000678.2:g.2340783C>G | GRCh38 |
| NC_000016.9:g.2390784C>G , CM000678.1:g.2390784C>G | GRCh37 |
| NC_000016.8:g.2330785C>G | NCBI36 |
| NG_011790.1:g.4964G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000640929.1:n.42+1452C>G | ||
| ENST00000512848.5:n.182+1452C>G |