Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401063A= , CM000663.2:g.17401063A= | GRCh38 |
| NC_000001.10:g.17727559A= , CM000663.1:g.17727559A= | GRCh37 |
| NC_000001.9:g.17600146A= | NCBI36 |
| NG_032943.1:g.33818A= | |
| NG_032943.2:g.33818A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1852-142A= MANE Select | ENSP00000483125.1:n.1852-142A= | |
| NM_207421.4:c.1852-142A= MANE Select | NP_997304.3:n.1852-142A= |