Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31663854T= , CM000683.2:g.31663854T= | GRCh38 |
| NC_000021.8:g.33036167T= , CM000683.1:g.33036167T= | GRCh37 |
| NC_000021.7:g.31958038T= | NCBI36 |
| NG_008689.1:g.9233T= , LRG_652:g.9233T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000454.5:c.137T= MANE Select | NP_000445.1:p.Phe46= |
| ENST00000270142.11:c.137T= MANE Select | ENSP00000270142.7:p.Phe46= |
| NM_000454.4:c.137T= , LRG_652t1:c.137T= | NP_000445.1:p.Phe46= |
| ENST00000270142.10:c.137T= | ENSP00000270142.6:p.Phe46= |
| ENST00000389995.4:c.80T= | ENSP00000374645.4:p.Phe27= |
| ENST00000470944.1:n.1065T= | |
| ENST00000476106.5:n.400T= |