Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060416G= , CM000664.2:g.219060416G= | GRCh38 |
| NC_000002.11:g.219925138G= , CM000664.1:g.219925138G= | GRCh37 |
| NC_000002.10:g.219633382G= | NCBI36 |
| NG_016741.1:g.5101C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.52C= MANE Select | ENSP00000295731.5:p.Leu18= | |
| ENST00000295731.6:c.52C= | ENSP00000295731.5:p.Leu18= | |
| NM_002181.3:c.52C= | NP_002172.2:p.Leu18= | |
| NM_002181.4:c.52C= MANE Select | NP_002172.2:p.Leu18= |