Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128305598G>A , CM000667.2:g.128305598G>A | GRCh38 |
| NC_000005.9:g.127641290G>A , CM000667.1:g.127641290G>A | GRCh37 |
| NC_000005.8:g.127669189G>A | NCBI36 |
| NG_008750.1:g.237446C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.5587C>T MANE Select | NP_001990.2:p.Arg1863Trp |
| ENST00000262464.9:c.5587C>T MANE Select | ENSP00000262464.4:p.Arg1863Trp |
| NM_001999.3:c.5587C>T | NP_001990.2:p.Arg1863Trp |
| ENST00000262464.8:c.5587C>T | ENSP00000262464.4:p.Arg1863Trp |
| ENST00000508053.5:c.5587C>T | ENSP00000424571.1:p.Arg1863Trp |
| ENST00000619499.4:c.5584C>T | ENSP00000482132.1:p.Arg1862Trp |
| ENST00000703783.1:n.2371C>T | |
| ENST00000703785.1:n.2290C>T | |
| XM_017009228.2:c.5434C>T | XP_016864717.1:p.Arg1812Trp |