Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053066T= , CM000664.2:g.223053066T= | GRCh38 |
| NC_000002.11:g.223917784T= , CM000664.1:g.223917784T= | GRCh37 |
| NC_000002.10:g.223626028T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.236T= MANE Select | ENSP00000281830.5:p.Leu79= | |
| ENST00000281830.3:c.389T= | ENSP00000281830.4:p.Leu130= | |
| ENST00000488477.2:n.75+792T= | ||
| NM_080671.3:c.389T= | NP_542402.3:p.Leu130= | |
| NM_080671.4:c.236T= MANE Select | NP_542402.4:p.Leu79= |