Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273651A= , CM000679.2:g.58273651A= | GRCh38 |
| NC_000017.10:g.56351012A= , CM000679.1:g.56351012A= | GRCh37 |
| NC_000017.9:g.53706011A= | NCBI36 |
| NG_009629.1:g.12285T= , LRG_84:g.12285T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.717T= | ||
| ENST00000699291.1:c.509T= | ENSP00000514272.1:p.Leu170= | |
| ENST00000699292.1:n.424T= | ||
| ENST00000225275.4:c.1384T= MANE Select | ENSP00000225275.3:p.Tyr462= | |
| ENST00000225275.3:c.1384T= | ENSP00000225275.3:p.Tyr462= | |
| NM_000250.1:c.1384T= , LRG_84t1:c.1384T= | NP_000241.1:p.Tyr462= | |
| XM_011524821.1:c.1570T= | XP_011523123.1:p.Tyr524= | |
| XM_011524822.1:c.1099T= | XP_011523124.1:p.Tyr367= | |
| XM_011524823.1:c.1409T= | XP_011523125.1:p.Leu470= | |
| NM_000250.2:c.1384T= MANE Select | NP_000241.1:p.Tyr462= |