Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44929300G>C , CM000681.2:g.44929300G>C | GRCh38 |
| NC_000019.9:g.45432557G>C , CM000681.1:g.45432557G>C | GRCh37 |
| NC_000019.8:g.50124397G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000571466.3:n.194+1370G>C | ||
| ENST00000571466.2:n.244+1370G>C | ||
| ENST00000575148.6:n.371+1370G>C | ||
| ENST00000589081.2:n.108-1700G>C | ||
| ENST00000692926.1:n.234-1700G>C | ||
| ENST00000507983.7:n.243+1370G>C | ||
| ENST00000571466.1:n.194+1370G>C | ||
| ENST00000574565.1:n.402+1370G>C | ||
| ENST00000575148.5:n.366+1370G>C | ||
| ENST00000589081.1:n.89-1700G>C | ||
| NR_028412.1:n.552+1370G>C | ||
| NR_028413.1:n.367+1370G>C | ||
| NR_028414.1:n.244+1370G>C |