Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14507079A>G , CM000674.2:g.14507079A>G | GRCh38 |
| NC_000012.11:g.14660013A>G , CM000674.1:g.14660013A>G | GRCh37 |
| NC_000012.10:g.14551280A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1226T>C MANE Select | ENSP00000240617.5:p.Ile409Thr | |
| ENST00000240617.9:c.1226T>C | ENSP00000240617.5:p.Ile409Thr | |
| NM_024829.5:c.1226T>C | NP_079105.4:p.Ile409Thr | |
| NM_024829.6:c.1226T>C MANE Select | NP_079105.4:p.Ile409Thr |