Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10196143C= , CM000681.2:g.10196143C= | GRCh38 |
| NC_000019.9:g.10306819C= , CM000681.1:g.10306819C= | GRCh37 |
| NC_000019.8:g.10167819C= | NCBI36 |
| NG_028016.3:g.40144G= , LRG_362:g.40144G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000586800.5:c.-284+4731G= | ENSP00000465555.1:n.-284+4731G= |
| ENST00000588118.5:c.11-1089G= | ENSP00000465223.1:n.11-1089G= |
| ENST00000588952.5:c.-283-14066G= | ENSP00000467050.1:n.-283-14066G= |
| ENST00000592342.5:c.-283-14066G= | ENSP00000465993.1:n.-283-14066G= |