dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223072841T>A , CM000664.2:g.223072841T>A | GRCh38 |
| NC_000002.11:g.223937559T>A , CM000664.1:g.223937559T>A | GRCh37 |
| NC_000002.10:g.223645803T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488477.2:n.189+12138T>A |