Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46894639A>C , CM000673.2:g.46894639A>C | GRCh38 |
| NC_000011.9:g.46916190A>C , CM000673.1:g.46916190A>C | GRCh37 |
| NC_000011.8:g.46872766A>C | NCBI36 |
| NG_021394.1:g.28984T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002334.4:c.1490T>G MANE Select | NP_002325.2:p.Leu497Arg |
| ENST00000378623.6:c.1490T>G MANE Select | ENSP00000367888.1:p.Leu497Arg |
| NM_002334.3:c.1490T>G | NP_002325.2:p.Leu497Arg |
| ENST00000378623.5:c.1490T>G | ENSP00000367888.1:p.Leu497Arg |
| XM_011520102.1:c.1703T>G | XP_011518404.1:p.Leu568Arg |
| XM_011520103.1:c.686T>G | XP_011518405.1:p.Leu229Arg |
| XM_011520103.2:c.686T>G | XP_011518405.1:p.Leu229Arg |
| XM_017017734.1:c.1490T>G | XP_016873223.1:p.Leu497Arg |