Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53196721G>A , CM000663.2:g.53196721G>A | GRCh38 |
| NC_000001.10:g.53662393G>A , CM000663.1:g.53662393G>A | GRCh37 |
| NC_000001.9:g.53434981G>A | NCBI36 |
| NG_008035.1:g.5293G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.3:c.-223G>A | ENSP00000360541.3:n.-223G>A | |
| NM_000098.2:c.-223G>A | NP_000089.1:n.-223G>A | |
| NM_001330589.1:c.-223G>A | NP_001317518.1:n.-223G>A |