Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58280457C= , CM000679.2:g.58280457C= | GRCh38 |
| NC_000017.10:g.56357818C= , CM000679.1:g.56357818C= | GRCh37 |
| NC_000017.9:g.53712817C= | NCBI36 |
| NG_009629.1:g.5479G= , LRG_84:g.5479G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000250.2:c.157G= MANE Select | NP_000241.1:p.Val53= |
| ENST00000225275.4:c.157G= MANE Select | ENSP00000225275.3:p.Val53= |
| NM_000250.1:c.157G= , LRG_84t1:c.157G= | NP_000241.1:p.Val53= |
| ENST00000225275.3:c.157G= | ENSP00000225275.3:p.Val53= |
| ENST00000580005.1:n.86G= | |
| XM_011524821.1:c.343G= | XP_011523123.1:p.Val115= |
| XM_011524822.1:c.-38+148G= | XP_011523124.1:n.-38+148G= |
| XM_011524823.1:c.343G= | XP_011523125.1:p.Val115= |