dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24959693A>T , CM000675.2:g.24959693A>T | GRCh38 |
| NC_000013.10:g.25533831A>T , CM000675.1:g.25533831A>T | GRCh37 |
| NC_000013.9:g.24431831A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429698.2:n.289-8205T>A | ||
| ENST00000685124.1:n.293-4824T>A | ||
| ENST00000687945.1:n.280-8205T>A | ||
| ENST00000688349.1:n.280-4824T>A | ||
| ENST00000688382.1:n.276-4824T>A | ||
| ENST00000688513.1:n.342-4824T>A | ||
| ENST00000690064.1:n.297-4824T>A | ||
| ENST00000692136.1:n.301-8205T>A | ||
| ENST00000692241.1:n.297-4824T>A | ||
| ENST00000692717.1:n.280-4824T>A | ||
| ENST00000649209.1:n.411+2056T>A | ||
| ENST00000429698.1:n.283-8205T>A | ||
| ENST00000434100.5:n.134+7699T>A | ||
| ENST00000435256.1:n.329+41T>A | ||
| NR_026730.1:n.265-8205T>A |