Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225605T= , CM000673.2:g.5225605T= | GRCh38 |
| NC_000011.9:g.5246835T= , CM000673.1:g.5246835T= | GRCh37 |
| NC_000011.8:g.5203411T= | NCBI36 |
| NG_000007.3:g.72011A= | |
| NG_059281.1:g.6467A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.437A= | ENSP00000494175.1:p.Tyr146= | |
| ENST00000335295.4:c.437A= MANE Select | ENSP00000333994.3:p.Tyr146= | |
| ENST00000633227.1:c.*253A= | ENSP00000488004.1:n.*253A= | |
| NM_000518.4:c.437A= | NP_000509.1:p.Tyr146= | |
| NM_000518.5:c.437A= MANE Select | NP_000509.1:p.Tyr146= |