dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.114262697C>A , CM000673.2:g.114262697C>A | GRCh38 |
| NC_000011.9:g.114133419C>A , CM000673.1:g.114133419C>A | GRCh37 |
| NC_000011.8:g.113638629C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000535185.5:n.93-151C>A | ||
| ENST00000535401.5:c.-216-151C>A | ENSP00000441434.1:n.-216-151C>A | |
| NM_001372047.1:c.-216-151C>A | NP_001358976.1:n.-216-151C>A | |
| NR_164073.1:n.287-151C>A |