Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55320928T>C , CM000674.2:g.55320928T>C | GRCh38 |
| NC_000012.11:g.55714712T>C , CM000674.1:g.55714712T>C | GRCh37 |
| NC_000012.10:g.54000979T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001005182.2:c.329T>C MANE Select | NP_001005182.1:p.Phe110Ser |
| ENST00000642104.1:c.329T>C MANE Select | ENSP00000492978.1:p.Phe110Ser |
| NM_001005182.1:c.329T>C | NP_001005182.1:p.Phe110Ser |
| ENST00000379668.3:c.329T>C | ENSP00000368990.2:p.Phe110Ser |