Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184668853T= , CM000664.2:g.184668853T= | GRCh38 |
| NC_000002.11:g.185533580T= , CM000664.1:g.185533580T= | GRCh37 |
| NC_000002.10:g.185241825T= | NCBI36 |
| NG_046950.1:g.75488T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_194250.2:c.111+69783T= MANE Select | NP_919226.1:n.111+69783T= |
| ENST00000302277.7:c.111+69783T= MANE Select | ENSP00000303252.6:n.111+69783T= |
| NM_194250.1:c.111+69783T= | NP_919226.1:n.111+69783T= |
| ENST00000302277.6:c.111+69783T= | ENSP00000303252.6:n.111+69783T= |