Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34371090G>C , CM000683.2:g.34371090G>C | GRCh38 |
| NC_000021.8:g.35743389G>C , CM000683.1:g.35743389G>C | GRCh37 |
| NC_000021.7:g.34665259G>C | NCBI36 |
| NG_008804.1:g.12067G>C , LRG_291:g.12067G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.*240G>C MANE Select | ENSP00000290310.2:n.*240G>C | |
| ENST00000290310.3:c.*240G>C | ENSP00000290310.2:n.*240G>C | |
| NM_172201.1:c.*240G>C , LRG_291t1:c.*240G>C | NP_751951.1:n.*240G>C | |
| XR_937683.1:n.231C>G | ||
| XR_937684.1:n.231C>G | ||
| XR_001755012.2:n.352C>G | ||
| XR_001755013.2:n.231C>G | ||
| XR_937683.2:n.231C>G | ||
| NM_172201.2:c.*240G>C MANE Select | NP_751951.1:n.*240G>C |