Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72024699G>A , CM000678.2:g.72024699G>A | GRCh38 |
| NC_000016.9:g.72058598G>A , CM000678.1:g.72058598G>A | GRCh37 |
| NC_000016.8:g.70616099G>A | NCBI36 |
| NG_016271.1:g.20956G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219240.9:c.*500G>A MANE Select | ENSP00000219240.4:n.*500G>A | |
| ENST00000219240.8:c.*500G>A | ENSP00000219240.4:n.*500G>A | |
| ENST00000572887.5:c.*500G>A | ENSP00000461848.1:n.*500G>A | |
| NM_001361.4:c.*500G>A | NP_001352.2:n.*500G>A | |
| XM_005255827.4:c.*500G>A | XP_005255884.1:n.*500G>A | |
| XM_005255829.4:c.*500G>A | XP_005255886.1:n.*500G>A | |
| XM_017022990.2:c.*500G>A | XP_016878479.1:n.*500G>A | |
| NM_001361.5:c.*500G>A MANE Select | NP_001352.2:n.*500G>A |