Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848625C= , CM000681.2:g.35848625C= | GRCh38 |
| NC_000019.9:g.36339527C= , CM000681.1:g.36339527C= | GRCh37 |
| NC_000019.8:g.41031367C= | NCBI36 |
| NG_013356.2:g.25663G= , LRG_693:g.25663G= | |
| NG_051206.1:g.1991C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1170+12G= MANE Select | ENSP00000368190.4:n.1170+12G= | |
| ENST00000353632.6:c.1170+12G= | ENSP00000343634.5:n.1170+12G= | |
| ENST00000378910.9:c.1170+12G= | ENSP00000368190.4:n.1170+12G= | |
| ENST00000592132.1:n.177+12G= | ||
| NM_004646.3:c.1170+12G= , LRG_693t1:c.1170+12G= | NP_004637.1:n.1170+12G= | |
| NM_004646.4:c.1170+12G= MANE Select | NP_004637.1:n.1170+12G= |