Linked Data
MyVariant Identifiers:
chr21:g.35743253C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370954C>G , CM000683.2:g.34370954C>G | GRCh38 |
| NC_000021.8:g.35743253C>G , CM000683.1:g.35743253C>G | GRCh37 |
| NC_000021.7:g.34665123C>G | NCBI36 |
| NG_008804.1:g.11931C>G , LRG_291:g.11931C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.*104C>G MANE Select | ENSP00000290310.2:n.*104C>G | |
| ENST00000290310.3:c.*104C>G | ENSP00000290310.2:n.*104C>G | |
| NM_172201.1:c.*104C>G , LRG_291t1:c.*104C>G | NP_751951.1:n.*104C>G | |
| XR_937683.1:n.367G>C | ||
| XR_937684.1:n.367G>C | ||
| XR_001755012.2:n.488G>C | ||
| XR_001755013.2:n.367G>C | ||
| XR_937683.2:n.367G>C | ||
| NM_172201.2:c.*104C>G MANE Select | NP_751951.1:n.*104C>G |