Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224472727T>A , CM000664.2:g.224472727T>A | GRCh38 |
| NC_000002.11:g.225337444T>A , CM000664.1:g.225337444T>A | GRCh37 |
| NC_000002.10:g.225045688T>A | NCBI36 |
| NG_032169.1:g.117671A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264414.9:c.*1518A>T MANE Select | ENSP00000264414.4:n.*1518A>T | |
| ENST00000264414.8:c.*1518A>T | ENSP00000264414.4:n.*1518A>T | |
| ENST00000344951.8:c.*1518A>T | ENSP00000343601.4:n.*1518A>T | |
| NM_001257197.1:c.*1518A>T | NP_001244126.1:n.*1518A>T | |
| NM_001257198.1:c.*1518A>T | NP_001244127.1:n.*1518A>T | |
| NM_003590.4:c.*1518A>T | NP_003581.1:n.*1518A>T | |
| NM_003590.5:c.*1518A>T MANE Select | NP_003581.1:n.*1518A>T | |
| NM_001257198.2:c.*1518A>T | NP_001244127.1:n.*1518A>T | |
| NM_001257197.2:c.*1518A>T | NP_001244126.1:n.*1518A>T |