Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69245391C>A , CM000664.2:g.69245391C>A | GRCh38 |
| NC_000002.11:g.69472523C>A , CM000664.1:g.69472523C>A | GRCh37 |
| NC_000002.10:g.69326027C>A | NCBI36 |
| NG_012649.1:g.237248C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303714.9:c.1601C>A MANE Select | ENSP00000301945.4:p.Pro534Gln | |
| ENST00000303714.8:c.1601C>A | ENSP00000301945.4:p.Pro534Gln | |
| NM_032208.2:c.1601C>A | NP_115584.1:p.Pro534Gln | |
| XR_939725.1:n.1748C>A | ||
| NM_032208.3:c.1601C>A MANE Select | NP_115584.1:p.Pro534Gln |