Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812320T>C , CM000664.2:g.218812320T>C | GRCh38 |
| NC_000002.11:g.219677043T>C , CM000664.1:g.219677043T>C | GRCh37 |
| NC_000002.10:g.219385287T>C | NCBI36 |
| NG_007959.1:g.35572T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.545T>C MANE Select | NP_000775.1:p.Ile182Thr |
| ENST00000258415.9:c.545T>C MANE Select | ENSP00000258415.4:p.Ile182Thr |
| NM_000784.3:c.545T>C | NP_000775.1:p.Ile182Thr |
| ENST00000258415.8:c.545T>C | ENSP00000258415.4:p.Ile182Thr |
| ENST00000411688.1:c.263T>C | ENSP00000392671.1:p.Ile88Thr |
| ENST00000445971.1:c.*6T>C | ENSP00000404945.1:n.*6T>C |
| ENST00000466602.1:n.363T>C | |
| ENST00000494263.5:n.979T>C | |
| XM_017003488.2:c.125T>C | XP_016858977.1:p.Ile42Thr |