Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34762701C>T , CM000668.2:g.34762701C>T | GRCh38 |
| NC_000006.11:g.34730478C>T , CM000668.1:g.34730478C>T | GRCh37 |
| NC_000006.10:g.34838456C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244520.10:c.158C>T MANE Select | ENSP00000244520.5:p.Thr53Ile | |
| ENST00000244520.9:c.158C>T | ENSP00000244520.5:p.Thr53Ile | |
| ENST00000374017.3:c.221C>T | ENSP00000363129.3:p.Thr74Ile | |
| ENST00000374018.5:c.35C>T | ENSP00000363130.1:p.Thr12Ile | |
| ENST00000474635.1:n.150C>T | ||
| NM_003093.2:c.158C>T | NP_003084.1:p.Thr53Ile | |
| NR_029472.1:n.565C>T | ||
| NM_003093.3:c.158C>T MANE Select | NP_003084.1:p.Thr53Ile | |
| NR_029472.2:n.154C>T |