Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46894638G>A , CM000673.2:g.46894638G>A | GRCh38 |
| NC_000011.9:g.46916189G>A , CM000673.1:g.46916189G>A | GRCh37 |
| NC_000011.8:g.46872765G>A | NCBI36 |
| NG_021394.1:g.28985C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002334.4:c.1491C>T MANE Select | NP_002325.2:p.Leu497= |
| ENST00000378623.6:c.1491C>T MANE Select | ENSP00000367888.1:p.Leu497= |
| NM_002334.3:c.1491C>T | NP_002325.2:p.Leu497= |
| ENST00000378623.5:c.1491C>T | ENSP00000367888.1:p.Leu497= |
| XM_011520102.1:c.1704C>T | XP_011518404.1:p.Leu568= |
| XM_011520103.1:c.687C>T | XP_011518405.1:p.Leu229= |
| XM_011520103.2:c.687C>T | XP_011518405.1:p.Leu229= |
| XM_017017734.1:c.1491C>T | XP_016873223.1:p.Leu497= |