Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44109299G>A , CM000669.2:g.44109299G>A | GRCh38 |
| NC_000007.13:g.44148898G>A , CM000669.1:g.44148898G>A | GRCh37 |
| NC_000007.12:g.44115423G>A | NCBI36 |
| NG_056775.1:g.9980G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001129.5:c.1108G>A MANE Select | NP_001120.3:p.Gly370Ser |
| ENST00000223357.8:c.1108G>A MANE Select | ENSP00000223357.3:p.Gly370Ser |
| NM_001129.4:c.1108G>A | NP_001120.3:p.Gly370Ser |
| ENST00000223357.7:c.1108G>A | ENSP00000223357.3:p.Gly370Ser |
| ENST00000453052.1:c.136G>A | ENSP00000400660.1:p.Gly46Ser |
| ENST00000454218.1:n.90G>A | |
| XM_011515162.1:c.1030G>A | XP_011513464.1:p.Gly344Ser |