Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787153A>G , CM000686.2:g.2787153A>G | GRCh38 |
| NC_000024.9:g.2655194A>G , CM000686.1:g.2655194A>G | GRCh37 |
| NC_000024.8:g.2715194A>G | NCBI36 |
| NG_011751.1:g.5599T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12414A>G | ||
| ENST00000679825.1:n.265A>G | ||
| ENST00000680285.1:n.320-2596A>G | ||
| ENST00000680845.1:n.165+100A>G | ||
| ENST00000681787.1:n.106+12414A>G | ||
| ENST00000681940.1:n.106+12414A>G | ||
| ENST00000383070.2:c.451T>C MANE Select | ENSP00000372547.1:p.Ser151Pro | |
| ENST00000383070.1:c.451T>C | ENSP00000372547.1:p.Ser151Pro | |
| NM_003140.2:c.451T>C | NP_003131.1:p.Ser151Pro | |
| NM_003140.3:c.451T>C MANE Select | NP_003131.1:p.Ser151Pro |