Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401518G>A , CM000663.2:g.17401518G>A | GRCh38 |
| NC_000001.10:g.17728014G>A , CM000663.1:g.17728014G>A | GRCh37 |
| NC_000001.9:g.17600601G>A | NCBI36 |
| NG_032943.1:g.34273G>A | |
| NG_032943.2:g.34273G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.*80G>A MANE Select | ENSP00000483125.1:n.*80G>A | |
| NM_207421.4:c.*80G>A MANE Select | NP_997304.3:n.*80G>A |