Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55811613T>A , CM000673.2:g.55811613T>A | GRCh38 |
| NC_000011.9:g.55579089T>A , CM000673.1:g.55579089T>A | GRCh37 |
| NC_000011.8:g.55335665T>A | NCBI36 |
| NG_052620.1:g.5247T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.147T>A MANE Select | ENSP00000485319.1:p.Ile49= | |
| ENST00000333973.3:c.147T>A | ENSP00000335529.2:p.Ile49= | |
| ENST00000623450.1:c.147T>A | ENSP00000485509.1:p.Ile49= | |
| ENST00000625203.1:c.147T>A | ENSP00000485319.1:p.Ile49= | |
| NM_001004738.1:c.147T>A | NP_001004738.1:p.Ile49= | |
| NM_001004738.2:c.147T>A MANE Select | NP_001004738.1:p.Ile49= |