Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75565157T>C , CM000664.2:g.75565157T>C | GRCh38 |
| NC_000002.11:g.75792283T>C , CM000664.1:g.75792283T>C | GRCh37 |
| NC_000002.10:g.75645791T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233712.5:c.-192+4319A>G | ENSP00000233712.1:n.-192+4319A>G | |
| ENST00000486696.1:n.223+4319A>G | ||
| NM_032181.2:c.-192+4319A>G | NP_115557.1:n.-192+4319A>G | |
| NM_032181.3:c.-192+4319A>G | NP_115557.1:n.-192+4319A>G |