Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.73123630G>T , CM000667.2:g.73123630G>T | GRCh38 |
| NC_000005.9:g.72419457G>T , CM000667.1:g.72419457G>T | GRCh37 |
| NC_000005.8:g.72455213G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173490.8:c.257G>T MANE Select | NP_775761.4:p.Arg86Leu |
| ENST00000454765.7:c.257G>T MANE Select | ENSP00000415030.2:p.Arg86Leu |
| NM_001161342.2:c.257G>T | NP_001154814.1:p.Arg86Leu |
| NM_001161342.3:c.257G>T | NP_001154814.1:p.Arg86Leu |
| NM_173490.7:c.257G>T | NP_775761.4:p.Arg86Leu |
| ENST00000287773.5:c.257G>T | ENSP00000287773.5:p.Arg86Leu |
| ENST00000454765.6:c.257G>T | ENSP00000415030.2:p.Arg86Leu |
| XM_011543156.1:c.257G>T | XP_011541458.1:p.Arg86Leu |
| XM_011543157.1:c.257G>T | XP_011541459.1:p.Arg86Leu |