Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6632097G= , CM000673.2:g.6632097G= | GRCh38 |
| NC_000011.9:g.6653328G= , CM000673.1:g.6653328G= | GRCh37 |
| NC_000011.8:g.6609904G= | NCBI36 |
| NG_033858.1:g.28753C= | |
| NG_033858.2:g.28753C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003737.4:c.3415C= MANE Select | NP_003728.1:p.Arg1139= |
| ENST00000299441.5:c.3415C= MANE Select | ENSP00000299441.3:p.Arg1139= |
| NM_003737.3:c.3415C= | NP_003728.1:p.Arg1139= |
| ENST00000299441.4:c.3415C= | ENSP00000299441.3:p.Arg1139= |