Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3927412G>T , CM000681.2:g.3927412G>T | GRCh38 |
| NC_000019.9:g.3927410G>T , CM000681.1:g.3927410G>T | GRCh37 |
| NC_000019.8:g.3878410G>T | NCBI36 |
| NG_012638.1:g.51793G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033064.5:c.*2820G>T MANE Select | NP_149053.1:n.*2820G>T |
| ENST00000450849.7:c.*2820G>T MANE Select | ENSP00000390941.1:n.*2820G>T |
| NM_033064.4:c.*2820G>T | NP_149053.1:n.*2820G>T |
| ENST00000450849.6:c.*2820G>T | ENSP00000390941.1:n.*2820G>T |