Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58280458A= , CM000679.2:g.58280458A= | GRCh38 |
| NC_000017.10:g.56357819A= , CM000679.1:g.56357819A= | GRCh37 |
| NC_000017.9:g.53712818A= | NCBI36 |
| NG_009629.1:g.5478T= , LRG_84:g.5478T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225275.4:c.156T= MANE Select | ENSP00000225275.3:p.Ala52= | |
| ENST00000225275.3:c.156T= | ENSP00000225275.3:p.Ala52= | |
| ENST00000580005.1:n.85T= | ||
| NM_000250.1:c.156T= , LRG_84t1:c.156T= | NP_000241.1:p.Ala52= | |
| XM_011524821.1:c.342T= | XP_011523123.1:p.Ala114= | |
| XM_011524822.1:c.-38+147T= | XP_011523124.1:n.-38+147T= | |
| XM_011524823.1:c.342T= | XP_011523125.1:p.Ala114= | |
| NM_000250.2:c.156T= MANE Select | NP_000241.1:p.Ala52= |