Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304725G= , CM000663.2:g.152304725G= | GRCh38 |
| NC_000001.10:g.152277201G= , CM000663.1:g.152277201G= | GRCh37 |
| NC_000001.9:g.150543825G= | NCBI36 |
| NG_016190.1:g.25479C= , LRG_1028:g.25479C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10161C= MANE Select | ENSP00000357789.1:p.Leu3387= | |
| ENST00000368799.1:c.10161C= | ENSP00000357789.1:p.Leu3387= | |
| NM_002016.1:c.10161C= , LRG_1028t1:c.10161C= | NP_002007.1:p.Leu3387= | |
| XM_011509329.1:c.9109-892C= | XP_011507631.1:n.9109-892C= | |
| NM_002016.2:c.10161C= MANE Select | NP_002007.1:p.Leu3387= |