Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431658A>G , CM000676.2:g.23431658A>G | GRCh38 |
| NC_000014.8:g.23900867A>G , CM000676.1:g.23900867A>G | GRCh37 |
| NC_000014.7:g.22970707A>G | NCBI36 |
| NG_007884.1:g.9004T>C , LRG_384:g.9004T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.659T>C MANE Select | ENSP00000347507.3:p.Ile220Thr | |
| ENST00000355349.3:c.659T>C | ENSP00000347507.3:p.Ile220Thr | |
| NM_000257.3:c.659T>C | NP_000248.2:p.Ile220Thr | |
| XR_245686.3:n.765T>C | ||
| XM_017021340.1:c.659T>C | XP_016876829.1:p.Ile220Thr | |
| NM_000257.4:c.659T>C MANE Select | NP_000248.2:p.Ile220Thr |