Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924300A>C , CM000675.2:g.27924300A>C | GRCh38 |
| NC_000013.10:g.28498437A>C , CM000675.1:g.28498437A>C | GRCh37 |
| NC_000013.9:g.27396437A>C | NCBI36 |
| NG_008183.1:g.9270A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.451A>C MANE Select | ENSP00000370421.4:p.Thr151Pro | |
| ENST00000381033.4:c.451A>C | ENSP00000370421.4:p.Thr151Pro | |
| NM_000209.3:c.451A>C | NP_000200.1:p.Thr151Pro | |
| XR_941578.1:n.3578A>C | ||
| XR_941579.1:n.2177A>C | ||
| XR_941580.1:n.1093A>C | ||
| XR_941578.2:n.3590A>C | ||
| XR_941580.2:n.1105A>C | ||
| NM_000209.4:c.451A>C MANE Select | NP_000200.1:p.Thr151Pro |