Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816670A= , CM000681.2:g.4816670A= | GRCh38 |
| NC_000019.9:g.4816682A= , CM000681.1:g.4816682A= | GRCh37 |
| NC_000019.8:g.4767682A= | NCBI36 |
| NG_031998.1:g.20073T= , LRG_358:g.20073T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1708T= MANE Select | ENSP00000248244.4:p.Tyr570= | |
| ENST00000248244.5:c.1708T= | ENSP00000248244.4:p.Tyr570= | |
| ENST00000621756.1:c.1291T= | ENSP00000479467.1:p.Tyr431= | |
| NM_182919.3:c.1708T= , LRG_358t1:c.1708T= | NP_891549.1:p.Tyr570= | |
| NM_001385678.1:c.1666T= | NP_001372607.1:p.Tyr556= | |
| NM_001385679.1:c.1573T= | NP_001372608.1:p.Tyr525= | |
| NM_001385680.1:c.1066T= | NP_001372609.1:p.Tyr356= | |
| NM_182919.4:c.1708T= MANE Select | NP_891549.1:p.Tyr570= |