Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519160C= , CM000674.2:g.52519160C= | GRCh38 |
| NC_000012.11:g.52912944C= , CM000674.1:g.52912944C= | GRCh37 |
| NC_000012.10:g.51199211C= | NCBI36 |
| NG_008297.1:g.6300G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.556G= MANE Select | NP_000415.2:p.Val186= |
| ENST00000252242.9:c.556G= MANE Select | ENSP00000252242.4:p.Val186= |
| NM_000424.3:c.556G= | NP_000415.2:p.Val186= |
| ENST00000252242.8:c.556G= | ENSP00000252242.4:p.Val186= |
| ENST00000549420.1:c.226G= | ENSP00000447209.1:p.Val76= |
| ENST00000551013.1:n.84G= | |
| ENST00000552629.5:n.654G= |