Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848318C= , CM000681.2:g.35848318C= | GRCh38 |
| NC_000019.9:g.36339220C= , CM000681.1:g.36339220C= | GRCh37 |
| NC_000019.8:g.41031060C= | NCBI36 |
| NG_013356.2:g.25970G= , LRG_693:g.25970G= | |
| NG_051206.1:g.1684C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.1250G= MANE Select | NP_004637.1:p.Cys417= |
| ENST00000378910.10:c.1250G= MANE Select | ENSP00000368190.4:p.Cys417= |
| NM_004646.3:c.1250G= , LRG_693t1:c.1250G= | NP_004637.1:p.Cys417= |
| ENST00000353632.6:c.1250G= | ENSP00000343634.5:p.Cys417= |
| ENST00000378910.9:c.1250G= | ENSP00000368190.4:p.Cys417= |
| ENST00000592132.1:n.257G= |