Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10877343C>A , CM000668.2:g.10877343C>A | GRCh38 |
| NC_000006.11:g.10877576C>A , CM000668.1:g.10877576C>A | GRCh37 |
| NC_000006.10:g.10985562C>A | NCBI36 |
| NG_008970.1:g.9523G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004752.4:c.140G>T MANE Select | NP_004743.1:p.Arg47Leu |
| ENST00000379491.5:c.140G>T MANE Select | ENSP00000368805.4:p.Arg47Leu |
| NM_004752.3:c.140G>T | NP_004743.1:p.Arg47Leu |
| ENST00000379491.4:c.140G>T | ENSP00000368805.4:p.Arg47Leu |
| ENST00000480294.1:c.101-14170C>A | ENSP00000417929.1:n.101-14170C>A |
| XM_011514991.1:c.140G>T | XP_011513293.1:p.Arg47Leu |