Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10960934G>A , CM000681.2:g.10960934G>A | GRCh38 |
| NC_000019.9:g.11071610G>A , CM000681.1:g.11071610G>A | GRCh37 |
| NC_000019.8:g.10932610G>A | NCBI36 |
| NG_011556.2:g.5013G>A | |
| NG_011556.3:g.5003G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642726.1:c.-269G>A | ENSP00000494353.1:n.-269G>A | |
| ENST00000643549.1:c.-269G>A | ENSP00000493975.1:n.-269G>A | |
| ENST00000644737.1:c.-269G>A | ENSP00000495548.1:n.-269G>A | |
| ENST00000646484.1:c.-269G>A | ENSP00000495536.1:n.-269G>A | |
| ENST00000646693.1:c.-269G>A | ENSP00000495368.1:n.-269G>A | |
| NM_001128844.1:c.-348G>A | NP_001122316.1:n.-348G>A | |
| NM_003072.3:c.-272G>A | NP_003063.2:n.-272G>A |