Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44111410C>T , CM000669.2:g.44111410C>T | GRCh38 |
| NC_000007.13:g.44151009C>T , CM000669.1:g.44151009C>T | GRCh37 |
| NC_000007.12:g.44117534C>T | NCBI36 |
| NG_056775.1:g.12091C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001129.5:c.1717-97C>T MANE Select | NP_001120.3:n.1717-97C>T |
| ENST00000223357.8:c.1717-97C>T MANE Select | ENSP00000223357.3:n.1717-97C>T |
| NM_001129.4:c.1717-97C>T | NP_001120.3:n.1717-97C>T |
| ENST00000223357.7:c.1717-97C>T | ENSP00000223357.3:n.1717-97C>T |
| ENST00000413907.1:c.36-97C>T | |
| ENST00000434445.1:c.503-97C>T | ENSP00000397241.1:n.503-97C>T |
| ENST00000450684.2:c.442-97C>T | ENSP00000398878.2:n.442-97C>T |
| XM_011515162.1:c.1639-97C>T | XP_011513464.1:n.1639-97C>T |