Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10877343C= , CM000668.2:g.10877343C= | GRCh38 |
| NC_000006.11:g.10877576C= , CM000668.1:g.10877576C= | GRCh37 |
| NC_000006.10:g.10985562C= | NCBI36 |
| NG_008970.1:g.9523G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004752.4:c.140G= MANE Select | NP_004743.1:p.Arg47= |
| ENST00000379491.5:c.140G= MANE Select | ENSP00000368805.4:p.Arg47= |
| NM_004752.3:c.140G= | NP_004743.1:p.Arg47= |
| ENST00000379491.4:c.140G= | ENSP00000368805.4:p.Arg47= |
| ENST00000480294.1:c.101-14170C= | ENSP00000417929.1:n.101-14170C= |
| XM_011514991.1:c.140G= | XP_011513293.1:p.Arg47= |