Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663031C= , CM000676.2:g.36663031C= | GRCh38 |
| NC_000014.8:g.37132236C= , CM000676.1:g.37132236C= | GRCh37 |
| NC_000014.7:g.36201987C= | NCBI36 |
| NG_013357.1:g.10464C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001372076.1:c.139C= MANE Select | NP_001359005.1:p.Arg47= |
| ENST00000361487.7:c.139C= MANE Select | ENSP00000355245.6:p.Arg47= |
| NM_006194.3:c.139C= | NP_006185.1:p.Arg47= |
| NM_006194.4:c.139C= | NP_006185.1:p.Arg47= |
| ENST00000361487.6:c.139C= | ENSP00000355245.6:p.Arg47= |
| ENST00000402703.6:c.139C= | ENSP00000384817.2:p.Arg47= |
| ENST00000554201.1:c.-423C= | ENSP00000450434.1:n.-423C= |
| ENST00000555639.1:n.441C= | |
| ENST00000555639.2:c.139C= | ENSP00000501203.1:p.Arg47= |