Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823870C>T , CM000668.2:g.35823870C>T | GRCh38 |
| NC_000006.11:g.35791647C>T , CM000668.1:g.35791647C>T | GRCh37 |
| NC_000006.10:g.35899625C>T | NCBI36 |
| NG_012184.1:g.23577C>T | |
| NG_012184.2:g.23577C>T | |
| NG_012184.3:g.31665C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*905C>T MANE Select | ENSP00000353346.1:n.*905C>T | |
| ENST00000496656.2:n.578+4050C>T | ||
| ENST00000651132.1:c.*905C>T | ENSP00000498322.1:n.*905C>T | |
| ENST00000651676.1:c.*16+4407C>T | ENSP00000498699.1:n.*16+4407C>T | |
| ENST00000652718.1:c.508+4407C>T | ENSP00000498866.1:n.508+4407C>T | |
| ENST00000360215.2:c.*905C>T | ENSP00000353346.1:n.*905C>T | |
| ENST00000496656.1:n.812+4050C>T | ||
| NM_182548.3:c.*905C>T | NP_872354.1:n.*905C>T | |
| NM_182548.4:c.*905C>T MANE Select | NP_872354.1:n.*905C>T |