Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175689T= , CM000679.2:g.70175689T= | GRCh38 |
| NC_000017.10:g.68171830T= , CM000679.1:g.68171830T= | GRCh37 |
| NC_000017.9:g.65683425T= | NCBI36 |
| NG_008798.1:g.11155T= , LRG_328:g.11155T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000891.3:c.650T= MANE Select | NP_000882.1:p.Leu217= |
| ENST00000243457.4:c.650T= MANE Select | ENSP00000243457.2:p.Leu217= |
| NM_000891.2:c.650T= , LRG_328t1:c.650T= | NP_000882.1:p.Leu217= |
| ENST00000243457.3:c.650T= | ENSP00000243457.2:p.Leu217= |
| ENST00000535240.1:c.650T= | ENSP00000441848.1:p.Leu217= |
| XM_011524779.1:c.650T= | XP_011523081.1:p.Leu217= |