dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30125451G>T , CM000676.2:g.30125451G>T | GRCh38 |
| NC_000014.8:g.30594657G>T , CM000676.1:g.30594657G>T | GRCh37 |
| NC_000014.7:g.29664408G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549503.1:c.-46+65848C>A | ENSP00000446866.1:n.-46+65848C>A |