Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7318076C>T , CM000674.2:g.7318076C>T | GRCh38 |
| NC_000012.11:g.7470672C>T , CM000674.1:g.7470672C>T | GRCh37 |
| NC_000012.10:g.7361939C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080454.2:c.815C>T MANE Select | NP_001073923.1:p.Thr272Met |
| ENST00000399422.5:c.815C>T MANE Select | ENSP00000382349.4:p.Thr272Met |
| NM_001080454.1:c.815C>T | NP_001073923.1:p.Thr272Met |
| ENST00000399422.4:c.815C>T | ENSP00000382349.4:p.Thr272Met |
| ENST00000533292.1:n.269C>T |