Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31200174T>A , CM000668.2:g.31200174T>A | GRCh38 |
| NC_000006.11:g.31167951T>A , CM000668.1:g.31167951T>A | GRCh37 |
| NC_000006.10:g.31275930T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383331.4:c.124-2198T>A | ||
| ENST00000414008.2:n.281T>A | ||
| ENST00000424675.1:c.44+1993T>A | ||
| NR_026791.1:n.124-2198T>A |