Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94974491A>T , CM000672.2:g.94974491A>T | GRCh38 |
| NC_000010.10:g.96734248A>T , CM000672.1:g.96734248A>T | GRCh37 |
| NC_000010.9:g.96724238A>T | NCBI36 |
| NG_008385.1:g.40834A>T | |
| NG_008385.2:g.41334A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.961+2246A>T MANE Select | ENSP00000260682.6:n.961+2246A>T | |
| ENST00000643112.1:c.820-6692A>T | ENSP00000496202.1:n.820-6692A>T | |
| ENST00000260682.6:c.961+2246A>T | ENSP00000260682.6:n.961+2246A>T | |
| NM_000771.3:c.961+2246A>T | NP_000762.2:n.961+2246A>T | |
| NM_000771.4:c.961+2246A>T MANE Select | NP_000762.2:n.961+2246A>T |