Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.121048430T>C , CM000685.2:g.121048430T>C | GRCh38 |
| NC_000023.10:g.120182284T>C , CM000685.1:g.120182284T>C | GRCh37 |
| NC_000023.9:g.120009965T>C | NCBI36 |
| NG_016456.1:g.5823T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328078.3:c.746T>C MANE Select | ENSP00000327589.1:p.Ile249Thr | |
| ENST00000328078.2:c.746T>C | ENSP00000327589.1:p.Ile249Thr | |
| NM_012084.3:c.746T>C | NP_036216.2:p.Ile249Thr | |
| NM_012084.4:c.746T>C MANE Select | NP_036216.2:p.Ile249Thr |