Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370861A>C , CM000683.2:g.34370861A>C | GRCh38 |
| NC_000021.8:g.35743160A>C , CM000683.1:g.35743160A>C | GRCh37 |
| NC_000021.7:g.34665030A>C | NCBI36 |
| NG_008804.1:g.11838A>C , LRG_291:g.11838A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_172201.2:c.*11A>C MANE Select | NP_751951.1:n.*11A>C |
| ENST00000290310.4:c.*11A>C MANE Select | ENSP00000290310.2:n.*11A>C |
| NM_172201.1:c.*11A>C , LRG_291t1:c.*11A>C | NP_751951.1:n.*11A>C |
| ENST00000290310.3:c.*11A>C | ENSP00000290310.2:n.*11A>C |
| XR_001755012.2:n.581T>G | |
| XR_001755013.2:n.460T>G | |
| XR_937683.1:n.460T>G | |
| XR_937683.2:n.460T>G | |
| XR_937684.1:n.460T>G |