Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75707354C>T , CM000676.2:g.75707354C>T | GRCh38 |
| NC_000014.8:g.76173697C>T , CM000676.1:g.76173697C>T | GRCh37 |
| NC_000014.7:g.75243450C>T | NCBI36 |
| NG_016974.1:g.51147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298832.14:c.655+267C>T MANE Select | ENSP00000298832.9:n.655+267C>T | |
| ENST00000286650.9:c.655+267C>T | ENSP00000286650.5:n.655+267C>T | |
| ENST00000298832.13:c.655+267C>T | ENSP00000298832.9:n.655+267C>T | |
| ENST00000555422.5:n.124+267C>T | ||
| ENST00000556173.5:n.581+267C>T | ||
| ENST00000557636.5:c.655+267C>T | ENSP00000450713.1:n.655+267C>T | |
| NM_015072.4:c.655+267C>T | NP_055887.3:n.655+267C>T | |
| NM_015072.5:c.655+267C>T MANE Select | NP_055887.3:n.655+267C>T |