Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144383974A>C , CM000664.2:g.144383974A>C | GRCh38 |
| NC_000002.11:g.145141541A>C , CM000664.1:g.145141541A>C | GRCh37 |
| NC_000002.10:g.144858011A>C | NCBI36 |
| NG_016431.1:g.141418T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000639389.1:c.151+12438T>G | ENSP00000492572.1:n.151+12438T>G |