Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694723T>C , CM000685.2:g.153694723T>C | GRCh38 |
| NC_000023.10:g.152960178T>C , CM000685.1:g.152960178T>C | GRCh37 |
| NC_000023.9:g.152613372T>C | NCBI36 |
| NG_012016.1:g.11427T>C | |
| NG_012016.2:g.11427T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005629.4:c.1601T>C MANE Select | NP_005620.1:p.Ile534Thr |
| ENST00000253122.10:c.1601T>C MANE Select | ENSP00000253122.5:p.Ile534Thr |
| NM_001142805.1:c.1571T>C | NP_001136277.1:p.Ile524Thr |
| NM_001142805.2:c.1571T>C | NP_001136277.1:p.Ile524Thr |
| NM_001142806.1:c.1256T>C | NP_001136278.1:p.Ile419Thr |
| NM_005629.3:c.1601T>C | NP_005620.1:p.Ile534Thr |
| ENST00000253122.9:c.1601T>C | ENSP00000253122.5:p.Ile534Thr |
| ENST00000430077.6:c.1256T>C | ENSP00000403041.2:p.Ile419Thr |
| ENST00000485324.1:n.1908T>C |