Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909409G= , CM000679.2:g.42909409G= | GRCh38 |
| NC_000017.10:g.41061426G= , CM000679.1:g.41061426G= | GRCh37 |
| NC_000017.9:g.38314952G= | NCBI36 |
| NG_011808.1:g.13612G= , LRG_147:g.13612G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.553G= MANE Select | ENSP00000253801.1:p.Val185= | |
| ENST00000253801.6:c.553G= | ENSP00000253801.1:p.Val185= | |
| ENST00000585489.1:c.447-1506G= | ENSP00000466202.1:n.447-1506G= | |
| ENST00000592383.5:c.476G= | ENSP00000465958.1:p.Ser159= | |
| NM_000151.3:c.553G= | NP_000142.2:p.Val185= | |
| NM_001270397.1:c.476G= | NP_001257326.1:p.Ser159= | |
| NM_000151.4:c.553G= MANE Select | NP_000142.2:p.Val185= | |
| NM_001270397.2:c.476G= | NP_001257326.1:p.Ser159= |