Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775553C>T , CM000672.2:g.94775553C>T | GRCh38 |
| NC_000010.10:g.96535310C>T , CM000672.1:g.96535310C>T | GRCh37 |
| NC_000010.9:g.96525300C>T | NCBI36 |
| NG_008384.2:g.17848C>T | |
| NG_008384.3:g.17873C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.481+14C>T MANE Select | ENSP00000360372.3:n.481+14C>T | |
| ENST00000645461.1:n.1534+14C>T | ||
| ENST00000371321.7:c.481+14C>T | ENSP00000360372.3:n.481+14C>T | |
| ENST00000464755.1:c.1244+14C>T | ENSP00000483243.1:n.1244+14C>T | |
| ENST00000480405.2:c.*6C>T | ENSP00000483847.1:n.*6C>T | |
| NM_000769.2:c.481+14C>T | NP_000760.1:n.481+14C>T | |
| NM_000769.4:c.481+14C>T MANE Select | NP_000760.1:n.481+14C>T |