Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431510T>C , CM000663.2:g.229431510T>C | GRCh38 |
| NC_000001.10:g.229567257T>C , CM000663.1:g.229567257T>C | GRCh37 |
| NC_000001.9:g.227633880T>C | NCBI36 |
| NG_006672.1:g.7587A>G , LRG_429:g.7587A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001100.4:c.1123A>G MANE Select | NP_001091.1:p.Lys375Glu |
| ENST00000366684.7:c.1123A>G MANE Select | ENSP00000355645.3:p.Lys375Glu |
| NM_001100.3:c.1123A>G , LRG_429t1:c.1123A>G | NP_001091.1:p.Lys375Glu |
| ENST00000366683.3:c.754A>G | ENSP00000355644.3:p.Lys252Glu |
| ENST00000366683.4:c.1045A>G | ENSP00000355644.4:p.Lys349Glu |
| ENST00000684723.1:c.988A>G | ENSP00000508084.1:p.Lys330Glu |