Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10286437A>C , CM000667.2:g.10286437A>C | GRCh38 |
| NC_000005.9:g.10286549A>C , CM000667.1:g.10286549A>C | GRCh37 |
| NC_000005.8:g.10339549A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296658.4:c.383T>G MANE Select | ENSP00000296658.3:p.Ile128Ser | |
| ENST00000296658.3:c.383T>G | ENSP00000296658.3:p.Ile128Ser | |
| ENST00000506821.1:n.637T>G | ||
| ENST00000510532.5:n.451T>G | ||
| ENST00000511963.5:n.491T>G | ||
| NM_138809.3:c.383T>G | NP_620164.1:p.Ile128Ser | |
| NM_138809.4:c.383T>G MANE Select | NP_620164.1:p.Ile128Ser |