dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.126377573A>T , CM000668.2:g.126377573A>T | GRCh38 |
| NC_000006.11:g.126698719A>T , CM000668.1:g.126698719A>T | GRCh37 |
| NC_000006.10:g.126740412A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651326.1:n.2418-70874T>A | ||
| ENST00000652383.1:n.631-66816T>A | ||
| NR_104462.1:n.725+31255A>T | ||
| NR_104462.2:n.399+31255A>T |