Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2437483C>T , CM000678.2:g.2437483C>T | GRCh38 |
| NC_000016.9:g.2487484C>T , CM000678.1:g.2487484C>T | GRCh37 |
| NC_000016.8:g.2427485C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001761.3:c.540+161C>T MANE Select | NP_001752.2:n.540+161C>T |
| ENST00000397066.9:c.540+161C>T MANE Select | ENSP00000380256.4:n.540+161C>T |
| NM_001323538.1:c.-385+161C>T | NP_001310467.1:n.-385+161C>T |
| NM_001323538.2:c.-385+161C>T | NP_001310467.1:n.-385+161C>T |
| NM_001761.2:c.540+161C>T | NP_001752.2:n.540+161C>T |
| ENST00000293968.11:c.*253+161C>T | ENSP00000293968.7:n.*253+161C>T |
| ENST00000397066.8:c.540+161C>T | ENSP00000380256.4:n.540+161C>T |
| ENST00000564333.1:n.1498C>T |