Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485187T>C , CM000668.2:g.143485187T>C | GRCh38 |
| NC_000006.11:g.143806324T>C , CM000668.1:g.143806324T>C | GRCh37 |
| NC_000006.10:g.143848017T>C | NCBI36 |
| NG_008459.1:g.39407T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.977T>C MANE Select | ENSP00000356563.4:p.Ile326Thr | |
| ENST00000367591.4:c.977T>C | ENSP00000356563.4:p.Ile326Thr | |
| ENST00000585848.1:n.116T>C | ||
| NM_003630.2:c.977T>C | NP_003621.1:p.Ile326Thr | |
| NM_003630.3:c.977T>C MANE Select | NP_003621.1:p.Ile326Thr |