Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59211893G>A , CM000673.2:g.59211893G>A | GRCh38 |
| NC_000011.9:g.58979366G>A , CM000673.1:g.58979366G>A | GRCh37 |
| NC_000011.8:g.58735942G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039396.2:c.973C>T MANE Select | NP_001034485.1:p.Pro325Ser |
| ENST00000361050.4:c.973C>T MANE Select | ENSP00000354335.3:p.Pro325Ser |
| NM_001039396.1:c.973C>T | NP_001034485.1:p.Pro325Ser |
| ENST00000361050.3:c.973C>T | ENSP00000354335.3:p.Pro325Ser |