Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35831358G= , CM000681.2:g.35831358G= | GRCh38 |
| NC_000019.9:g.36322260G= , CM000681.1:g.36322260G= | GRCh37 |
| NC_000019.8:g.41014100G= | NCBI36 |
| NG_013356.2:g.42930C= , LRG_693:g.42930C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.3325C= MANE Select | NP_004637.1:p.Arg1109= |
| ENST00000378910.10:c.3325C= MANE Select | ENSP00000368190.4:p.Arg1109= |
| NM_004646.3:c.3325C= , LRG_693t1:c.3325C= | NP_004637.1:p.Arg1109= |
| ENST00000353632.6:c.3205C= | ENSP00000343634.5:p.Arg1069= |
| ENST00000378910.9:c.3325C= | ENSP00000368190.4:p.Arg1109= |