dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58292243T>G , CM000663.2:g.58292243T>G | GRCh38 |
| NC_000001.10:g.58757915T>G , CM000663.1:g.58757915T>G | GRCh37 |
| NC_000001.9:g.58530503T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485760.5:n.309+51109A>C | ||
| NM_001379461.1:c.-453+51109A>C | NP_001366390.1:n.-453+51109A>C |