Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2866842C>T , CM000686.2:g.2866842C>T | GRCh38 |
| NC_000024.9:g.2734883C>T , CM000686.1:g.2734883C>T | GRCh37 |
| NC_000024.8:g.2794883C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250784.13:c.740C>T MANE Select | ENSP00000250784.7:p.Thr247Ile | |
| ENST00000250784.12:c.740C>T | ENSP00000250784.7:p.Thr247Ile | |
| ENST00000430575.1:c.767C>T | ENSP00000415317.1:p.Thr256Ile | |
| ENST00000477725.1:n.884C>T | ||
| ENST00000515575.1:n.42+12071C>T | ||
| NM_001008.3:c.740C>T | NP_000999.1:p.Thr247Ile | |
| NM_001008.4:c.740C>T MANE Select | NP_000999.1:p.Thr247Ile |