dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55707385T>A , CM000678.2:g.55707385T>A | GRCh38 |
| NC_000016.9:g.55741297T>A , CM000678.1:g.55741297T>A | GRCh37 |
| NC_000016.8:g.54298798T>A | NCBI36 |
| NG_016969.1:g.56756T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682050.1:c.*5592T>A | ENSP00000508367.1:n.*5592T>A |