dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100362846T>G , CM000672.2:g.100362846T>G | GRCh38 |
| NC_000010.10:g.102122603T>G , CM000672.1:g.102122603T>G | GRCh37 |
| NC_000010.9:g.102112593T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370355.3:c.*1913T>G MANE Select | ENSP00000359380.2:n.*1913T>G | |
| ENST00000370355.2:c.*1913T>G | ENSP00000359380.2:n.*1913T>G | |
| NM_005063.4:c.*1913T>G | NP_005054.3:n.*1913T>G | |
| NM_005063.5:c.*1913T>G MANE Select | NP_005054.3:n.*1913T>G |