Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96277907T>C , CM000664.2:g.96277907T>C | GRCh38 |
| NC_000002.11:g.96943645T>C , CM000664.1:g.96943645T>C | GRCh37 |
| NC_000002.10:g.96307372T>C | NCBI36 |
| NG_016973.1:g.32653A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014014.5:c.5654A>G MANE Select | NP_054733.2:p.Asn1885Ser |
| ENST00000323853.10:c.5654A>G MANE Select | ENSP00000317123.5:p.Asn1885Ser |
| NM_014014.4:c.5654A>G | NP_054733.2:p.Asn1885Ser |
| ENST00000323853.9:c.5654A>G | ENSP00000317123.5:p.Asn1885Ser |
| ENST00000429650.1:c.1235A>G | ENSP00000387870.1:p.Asn412Ser |
| ENST00000480835.1:n.167A>G | |
| ENST00000497539.5:n.1628A>G |