Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23786961T>A , CM000684.2:g.23786961T>A | GRCh38 |
| NC_000022.10:g.24129148T>A , CM000684.1:g.24129148T>A | GRCh37 |
| NC_000022.9:g.22459148T>A | NCBI36 |
| NG_009303.1:g.4999T>A , LRG_520:g.4999T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407422.8:c.-209T>A | ENSP00000383984.3:n.-209T>A | |
| NM_001007468.2:c.-209T>A | NP_001007469.1:n.-209T>A | |
| NM_001317946.1:c.-209T>A | NP_001304875.1:n.-209T>A | |
| NM_001362877.1:c.-209T>A | NP_001349806.1:n.-209T>A | |
| NM_003073.4:c.-209T>A | NP_003064.2:n.-209T>A |