Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58279553T= , CM000679.2:g.58279553T= | GRCh38 |
| NC_000017.10:g.56356914T= , CM000679.1:g.56356914T= | GRCh37 |
| NC_000017.9:g.53711913T= | NCBI36 |
| NG_009629.1:g.6383A= , LRG_84:g.6383A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000250.2:c.518A= MANE Select | NP_000241.1:p.Tyr173= |
| ENST00000225275.4:c.518A= MANE Select | ENSP00000225275.3:p.Tyr173= |
| NM_000250.1:c.518A= , LRG_84t1:c.518A= | NP_000241.1:p.Tyr173= |
| ENST00000225275.3:c.518A= | ENSP00000225275.3:p.Tyr173= |
| XM_011524821.1:c.704A= | XP_011523123.1:p.Tyr235= |
| XM_011524822.1:c.233A= | XP_011523124.1:p.Tyr78= |
| XM_011524823.1:c.704A= | XP_011523125.1:p.Tyr235= |