Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.170966015C>T , CM000664.2:g.170966015C>T | GRCh38 |
| NC_000002.11:g.171822525C>T , CM000664.1:g.171822525C>T | GRCh37 |
| NC_000002.10:g.171530771C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015530.5:c.1244C>T MANE Select | NP_056345.3:p.Thr415Met |
| ENST00000234160.5:c.1244C>T MANE Select | ENSP00000234160.4:p.Thr415Met |
| NM_001201428.1:c.1040C>T | NP_001188357.1:p.Thr347Met |
| NM_001201428.2:c.1040C>T | NP_001188357.1:p.Thr347Met |
| NM_015530.4:c.1244C>T | NP_056345.3:p.Thr415Met |
| ENST00000234160.4:c.1244C>T | ENSP00000234160.4:p.Thr415Met |
| ENST00000442798.5:c.*1276C>T | ENSP00000399889.1:n.*1276C>T |
| ENST00000486498.1:n.1510C>T | |
| XM_006712408.2:c.1040C>T | XP_006712471.1:p.Thr347Met |