Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77518096A>C , CM000676.2:g.77518096A>C | GRCh38 |
| NC_000014.8:g.77984439A>C , CM000676.1:g.77984439A>C | GRCh37 |
| NC_000014.7:g.77054192A>C | NCBI36 |
| NG_028282.1:g.103672T>G , LRG_371:g.103672T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686627.1:n.543T>G | ||
| ENST00000687688.1:n.1274T>G | ||
| ENST00000692906.1:n.1243T>G | ||
| ENST00000216484.7:c.1511T>G MANE Select | ENSP00000216484.2:p.Ile504Ser | |
| ENST00000216484.6:c.1511T>G | ENSP00000216484.2:p.Ile504Ser | |
| ENST00000556607.1:c.339T>G | ENSP00000451029.1:n.339T>G | |
| NM_004863.3:c.1511T>G , LRG_371t1:c.1511T>G | NP_004854.1:p.Ile504Ser | |
| NM_004863.4:c.1511T>G MANE Select | NP_004854.1:p.Ile504Ser |