Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28878787A>G , CM000678.2:g.28878787A>G | GRCh38 |
| NC_000016.9:g.28890108A>G , CM000678.1:g.28890108A>G | GRCh37 |
| NC_000016.8:g.28797609A>G | NCBI36 |
| NG_023327.1:g.5300A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004320.6:c.116A>G MANE Select | NP_004311.1:p.Asn39Ser |
| ENST00000395503.9:c.116A>G MANE Select | ENSP00000378879.5:p.Asn39Ser |
| NM_004320.4:c.116A>G | NP_004311.1:p.Asn39Ser |
| NM_173201.3:c.116A>G | NP_775293.1:p.Asn39Ser |
| NM_173201.4:c.116A>G | NP_775293.1:p.Asn39Ser |
| NM_173201.5:c.116A>G | NP_775293.1:p.Asn39Ser |
| ENST00000357084.7:c.116A>G | ENSP00000349595.3:p.Asn39Ser |
| ENST00000395503.8:c.116A>G | ENSP00000378879.4:p.Asn39Ser |