Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764122C= , CM000674.2:g.57764122C= | GRCh38 |
| NC_000012.11:g.58157905C= , CM000674.1:g.58157905C= | GRCh37 |
| NC_000012.10:g.56444172C= | NCBI36 |
| NG_007076.1:g.8072G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1272G= | ENSP00000518840.1:p.Val424= | |
| ENST00000713545.1:c.*196G= | ENSP00000518841.1:n.*196G= | |
| ENST00000228606.9:c.1191G= MANE Select | ENSP00000228606.4:p.Val397= | |
| ENST00000228606.8:c.1191G= | ENSP00000228606.4:p.Val397= | |
| ENST00000547344.5:n.1330G= | ||
| NM_000785.3:c.1191G= | NP_000776.1:p.Val397= | |
| NM_000785.4:c.1191G= MANE Select | NP_000776.1:p.Val397= |