dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.142330934G>T , CM000667.2:g.142330934G>T | GRCh38 |
| NC_000005.9:g.141710499G>T , CM000667.1:g.141710499G>T | GRCh37 |
| NC_000005.8:g.141690683G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120664.1:n.78+5564G>T |