Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80708053G>T , CM000674.2:g.80708053G>T | GRCh38 |
| NC_000012.11:g.81101832G>T , CM000674.1:g.81101832G>T | GRCh37 |
| NC_000012.10:g.79625963G>T | NCBI36 |
| NG_021392.1:g.5425G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002469.3:c.334G>T MANE Select | NP_002460.1:p.Ala112Ser |
| ENST00000228641.4:c.334G>T MANE Select | ENSP00000228641.3:p.Ala112Ser |
| NM_002469.2:c.334G>T | NP_002460.1:p.Ala112Ser |
| ENST00000228641.3:c.334G>T | ENSP00000228641.3:p.Ala112Ser |