Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989032A>G , CM000672.2:g.94989032A>G | GRCh38 |
| NC_000010.10:g.96748789A>G , CM000672.1:g.96748789A>G | GRCh37 |
| NC_000010.9:g.96738779A>G | NCBI36 |
| NG_008385.1:g.55375A>G | |
| NG_008385.2:g.55875A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.*4A>G MANE Select | ENSP00000260682.6:n.*4A>G | |
| ENST00000643112.1:c.*486A>G | ENSP00000496202.1:n.*486A>G | |
| ENST00000260682.6:c.*4A>G | ENSP00000260682.6:n.*4A>G | |
| NM_000771.3:c.*4A>G | NP_000762.2:n.*4A>G | |
| NM_000771.4:c.*4A>G MANE Select | NP_000762.2:n.*4A>G |