Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88639809C>T , CM000678.2:g.88639809C>T | GRCh38 |
| NC_000016.9:g.88706217C>T , CM000678.1:g.88706217C>T | GRCh37 |
| NC_000016.8:g.87233718C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013278.4:c.336-5C>T MANE Select | NP_037410.1:n.336-5C>T |
| ENST00000244241.5:c.336-5C>T MANE Select | ENSP00000244241.4:n.336-5C>T |
| NM_013278.3:c.336-5C>T | NP_037410.1:n.336-5C>T |
| ENST00000244241.4:c.336-5C>T | ENSP00000244241.4:n.336-5C>T |
| ENST00000569133.1:n.720-5C>T |