Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246352G>T , CM000674.2:g.65246352G>T | GRCh38 |
| NC_000012.11:g.65640132G>T , CM000674.1:g.65640132G>T | GRCh37 |
| NC_000012.10:g.63926399G>T | NCBI36 |
| NG_016210.1:g.81782G>T | |
| NG_016210.2:g.81782G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.*27G>T MANE Select | ENSP00000308369.2:n.*27G>T | |
| ENST00000308330.2:c.*27G>T | ENSP00000308369.2:n.*27G>T | |
| ENST00000539442.1:n.745G>T | ||
| ENST00000545026.1:n.581G>T | ||
| NM_001167614.1:c.*27G>T | NP_001161086.1:n.*27G>T | |
| NM_014319.4:c.*27G>T | NP_055134.2:n.*27G>T | |
| NM_014319.5:c.*27G>T MANE Select | NP_055134.2:n.*27G>T | |
| NM_001167614.2:c.*27G>T | NP_001161086.1:n.*27G>T |