Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21636074T= , CM000669.2:g.21636074T= | GRCh38 |
| NC_000007.13:g.21675692T= , CM000669.1:g.21675692T= | GRCh37 |
| NC_000007.12:g.21642217T= | NCBI36 |
| NG_012886.2:g.97860T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4704T= MANE Select | ENSP00000475939.1:p.Asp1568= | |
| ENST00000328843.10:c.4719T= | ENSP00000330671.7:p.Asp1573= | |
| ENST00000409508.7:c.4704T= | ENSP00000475939.1:p.Asp1568= | |
| ENST00000465593.1:n.730T= | ||
| ENST00000620169.4:c.4719T= | ENSP00000481693.1:p.Asp1573= | |
| NM_001277115.1:c.4704T= | NP_001264044.1:p.Asp1568= | |
| NM_001277115.2:c.4704T= MANE Select | NP_001264044.1:p.Asp1568= |