Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225604A= , CM000673.2:g.5225604A= | GRCh38 |
| NC_000011.9:g.5246834A= , CM000673.1:g.5246834A= | GRCh37 |
| NC_000011.8:g.5203410A= | NCBI36 |
| NG_000007.3:g.72012T= | |
| NG_059281.1:g.6468T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.438T= MANE Select | NP_000509.1:p.Tyr146= |
| ENST00000335295.4:c.438T= MANE Select | ENSP00000333994.3:p.Tyr146= |
| NM_000518.4:c.438T= | NP_000509.1:p.Tyr146= |
| ENST00000633227.1:c.*254T= | ENSP00000488004.1:n.*254T= |
| ENST00000647020.1:c.438T= | ENSP00000494175.1:p.Tyr146= |