Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.89407365T>C , CM000665.2:g.89407365T>C | GRCh38 |
| NC_000003.11:g.89456515T>C , CM000665.1:g.89456515T>C | GRCh37 |
| NC_000003.10:g.89539205T>C | NCBI36 |
| NG_023239.1:g.304842T>C | |
| NG_023239.2:g.304842T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336596.7:c.1691T>C MANE Select | ENSP00000337451.2:p.Ile564Thr | |
| ENST00000336596.6:c.1691T>C | ENSP00000337451.2:p.Ile564Thr | |
| ENST00000494014.1:c.1691T>C | ENSP00000419190.1:p.Ile564Thr | |
| NM_005233.5:c.1691T>C | NP_005224.2:p.Ile564Thr | |
| XM_005264715.1:c.1688T>C | XP_005264772.1:p.Ile563Thr | |
| XM_005264716.1:c.1691T>C | XP_005264773.1:p.Ile564Thr | |
| XM_005264715.3:c.1688T>C | XP_005264772.1:p.Ile563Thr | |
| XM_005264716.3:c.1691T>C | XP_005264773.1:p.Ile564Thr | |
| NM_005233.6:c.1691T>C MANE Select | NP_005224.2:p.Ile564Thr |