Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144727T>C , CM000670.2:g.96144727T>C | GRCh38 |
| NC_000008.10:g.97156955T>C , CM000670.1:g.97156955T>C | GRCh37 |
| NC_000008.9:g.97226131T>C | NCBI36 |
| NG_008981.1:g.21066A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001557.4:c.1204A>G MANE Select | NP_001001557.1:p.Ile402Val |
| ENST00000287020.7:c.1204A>G MANE Select | ENSP00000287020.4:p.Ile402Val |
| NM_001001557.2:c.1204A>G | NP_001001557.1:p.Ile402Val |
| NM_001001557.3:c.1204A>G | NP_001001557.1:p.Ile402Val |
| ENST00000287020.6:c.1204A>G | ENSP00000287020.4:p.Ile402Val |
| ENST00000620978.1:c.794-50A>G | ENSP00000480170.1:n.794-50A>G |
| ENST00000621429.1:c.953A>G | ENSP00000483711.1:p.His318Arg |
| XM_011517030.1:c.805A>G | XP_011515332.1:p.Ile269Val |