Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128376806T>C , CM000667.2:g.128376806T>C | GRCh38 |
| NC_000005.9:g.127712499T>C , CM000667.1:g.127712499T>C | GRCh37 |
| NC_000005.8:g.127740398T>C | NCBI36 |
| NG_008750.1:g.166237A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.1897A>G MANE Select | NP_001990.2:p.Ile633Val |
| ENST00000262464.9:c.1897A>G MANE Select | ENSP00000262464.4:p.Ile633Val |
| NM_001999.3:c.1897A>G | NP_001990.2:p.Ile633Val |
| ENST00000262464.8:c.1897A>G | ENSP00000262464.4:p.Ile633Val |
| ENST00000508053.5:c.1897A>G | ENSP00000424571.1:p.Ile633Val |
| ENST00000508989.5:c.1798A>G | ENSP00000425596.1:p.Ile600Val |
| ENST00000511489.1:n.118A>G | |
| ENST00000619499.4:c.1894A>G | ENSP00000482132.1:p.Ile632Val |
| XM_017009228.2:c.1744A>G | XP_016864717.1:p.Ile582Val |