Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96278689C>T , CM000664.2:g.96278689C>T | GRCh38 |
| NC_000002.11:g.96944427C>T , CM000664.1:g.96944427C>T | GRCh37 |
| NC_000002.10:g.96308154C>T | NCBI36 |
| NG_016973.1:g.31871G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014014.5:c.5346G>A MANE Select | NP_054733.2:p.Ser1782= |
| ENST00000323853.10:c.5346G>A MANE Select | ENSP00000317123.5:p.Ser1782= |
| NM_014014.4:c.5346G>A | NP_054733.2:p.Ser1782= |
| ENST00000323853.9:c.5346G>A | ENSP00000317123.5:p.Ser1782= |
| ENST00000429650.1:c.927G>A | ENSP00000387870.1:p.Ser309= |
| ENST00000484372.1:n.570G>A | |
| ENST00000497539.5:n.1320G>A |