Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20756118G>A , CM000686.2:g.20756118G>A | GRCh38 |
| NC_000024.9:g.22918004G>A , CM000686.1:g.22918004G>A | GRCh37 |
| NC_000024.8:g.21327392G>A | NCBI36 |
| NG_032924.1:g.5051G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629237.2:c.-46G>A MANE Select | ENSP00000486252.1:n.-46G>A | |
| NM_001039567.2:c.-46G>A | NP_001034656.1:n.-46G>A | |
| NM_001039567.3:c.-46G>A MANE Select | NP_001034656.1:n.-46G>A |