Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060408C>A , CM000664.2:g.219060408C>A | GRCh38 |
| NC_000002.11:g.219925130C>A , CM000664.1:g.219925130C>A | GRCh37 |
| NC_000002.10:g.219633374C>A | NCBI36 |
| NG_016741.1:g.5109G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.60G>T MANE Select | ENSP00000295731.5:p.Leu20= | |
| ENST00000295731.6:c.60G>T | ENSP00000295731.5:p.Leu20= | |
| NM_002181.3:c.60G>T | NP_002172.2:p.Leu20= | |
| NM_002181.4:c.60G>T MANE Select | NP_002172.2:p.Leu20= |