Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225662A= , CM000673.2:g.5225662A= | GRCh38 |
| NC_000011.9:g.5246892A= , CM000673.1:g.5246892A= | GRCh37 |
| NC_000011.8:g.5203468A= | NCBI36 |
| NG_000007.3:g.71954T= | |
| NG_059281.1:g.6410T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.380T= MANE Select | NP_000509.1:p.Val127= |
| ENST00000335295.4:c.380T= MANE Select | ENSP00000333994.3:p.Val127= |
| NM_000518.4:c.380T= | NP_000509.1:p.Val127= |
| ENST00000475226.1:n.312T= | |
| ENST00000633227.1:c.*196T= | ENSP00000488004.1:n.*196T= |
| ENST00000647020.1:c.380T= | ENSP00000494175.1:p.Val127= |