Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17393833A>C , CM000663.2:g.17393833A>C | GRCh38 |
| NC_000001.10:g.17720329A>C , CM000663.1:g.17720329A>C | GRCh37 |
| NC_000001.9:g.17592916A>C | NCBI36 |
| NG_032943.1:g.26588A>C | |
| NG_032943.2:g.26588A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1075-142A>C MANE Select | ENSP00000483125.1:n.1075-142A>C | |
| NM_207421.4:c.1075-142A>C MANE Select | NP_997304.3:n.1075-142A>C |