Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431374A>G , CM000663.2:g.229431374A>G | GRCh38 |
| NC_000001.10:g.229567121A>G , CM000663.1:g.229567121A>G | GRCh37 |
| NC_000001.9:g.227633744A>G | NCBI36 |
| NG_006672.1:g.7723T>C , LRG_429:g.7723T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.*125T>C | ENSP00000355644.4:n.*125T>C | |
| ENST00000684723.1:c.*125T>C | ENSP00000508084.1:n.*125T>C | |
| ENST00000366683.3:c.*125T>C | ENSP00000355644.3:n.*125T>C | |
| ENST00000366684.7:c.*125T>C MANE Select | ENSP00000355645.3:n.*125T>C | |
| NM_001100.3:c.*125T>C , LRG_429t1:c.*125T>C | NP_001091.1:n.*125T>C | |
| NM_001100.4:c.*125T>C MANE Select | NP_001091.1:n.*125T>C |