Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370627T>C , CM000683.2:g.34370627T>C | GRCh38 |
| NC_000021.8:g.35742926T>C , CM000683.1:g.35742926T>C | GRCh37 |
| NC_000021.7:g.34664796T>C | NCBI36 |
| NG_008804.1:g.11604T>C , LRG_291:g.11604T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.149T>C MANE Select | ENSP00000290310.2:p.Ile50Thr | |
| ENST00000290310.3:c.149T>C | ENSP00000290310.2:p.Ile50Thr | |
| NM_172201.1:c.149T>C , LRG_291t1:c.149T>C | NP_751951.1:p.Ile50Thr | |
| XR_937683.1:n.694A>G | ||
| XR_937684.1:n.694A>G | ||
| XR_001755012.2:n.815A>G | ||
| XR_001755013.2:n.694A>G | ||
| XR_937683.2:n.694A>G | ||
| NM_172201.2:c.149T>C MANE Select | NP_751951.1:p.Ile50Thr |