Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10199716A>C , CM000681.2:g.10199716A>C | GRCh38 |
| NC_000019.9:g.10310392A>C , CM000681.1:g.10310392A>C | GRCh37 |
| NC_000019.8:g.10171392A>C | NCBI36 |
| NG_028016.3:g.36571T>G , LRG_362:g.36571T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000586800.5:c.-284+1158T>G | ENSP00000465555.1:n.-284+1158T>G |
| ENST00000588118.5:c.10+1158T>G | ENSP00000465223.1:n.10+1158T>G |
| ENST00000588952.5:c.-283-17639T>G | ENSP00000467050.1:n.-283-17639T>G |
| ENST00000592342.5:c.-283-17639T>G | ENSP00000465993.1:n.-283-17639T>G |