Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2281229C>T , CM000678.2:g.2281229C>T | GRCh38 |
| NC_000016.9:g.2331230C>T , CM000678.1:g.2331230C>T | GRCh37 |
| NC_000016.8:g.2271231C>T | NCBI36 |
| NG_011790.1:g.64518G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.4165-8G>A MANE Select | NP_001080.2:n.4165-8G>A |
| ENST00000301732.10:c.4165-8G>A MANE Select | ENSP00000301732.5:n.4165-8G>A |
| NM_001089.2:c.4165-8G>A | NP_001080.2:n.4165-8G>A |
| ENST00000301732.9:c.4165-8G>A | ENSP00000301732.5:n.4165-8G>A |
| ENST00000382381.7:c.3991-8G>A | ENSP00000371818.3:n.3991-8G>A |
| ENST00000566200.1:n.686-8G>A |