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