Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109237287C>G , CM000663.2:g.109237287C>G | GRCh38 |
| NC_000001.10:g.109779909C>G , CM000663.1:g.109779909C>G | GRCh37 |
| NC_000001.9:g.109581432C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006513.4:c.1301C>G MANE Select | NP_006504.2:p.Thr434Ser |
| ENST00000234677.7:c.1301C>G MANE Select | ENSP00000234677.2:p.Thr434Ser |
| NM_001330669.1:c.1367C>G | NP_001317598.1:p.Thr456Ser |
| NM_006513.3:c.1301C>G | NP_006504.2:p.Thr434Ser |
| ENST00000234677.6:c.1301C>G | ENSP00000234677.2:p.Thr434Ser |
| ENST00000369923.4:c.1367C>G | ENSP00000358939.4:p.Thr456Ser |
| ENST00000468588.1:n.1057C>G | |
| XM_006710813.2:c.1367C>G | XP_006710876.1:p.Thr456Ser |