Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21636048C= , CM000669.2:g.21636048C= | GRCh38 |
| NC_000007.13:g.21675666C= , CM000669.1:g.21675666C= | GRCh37 |
| NC_000007.12:g.21642191C= | NCBI36 |
| NG_012886.2:g.97834C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4678C= MANE Select | ENSP00000475939.1:p.Leu1560= | |
| ENST00000328843.10:c.4693C= | ENSP00000330671.7:p.Leu1565= | |
| ENST00000409508.7:c.4678C= | ENSP00000475939.1:p.Leu1560= | |
| ENST00000465593.1:n.704C= | ||
| ENST00000620169.4:c.4693C= | ENSP00000481693.1:p.Leu1565= | |
| NM_001277115.1:c.4678C= | NP_001264044.1:p.Leu1560= | |
| NM_001277115.2:c.4678C= MANE Select | NP_001264044.1:p.Leu1560= |