Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66221240C>G , CM000673.2:g.66221240C>G | GRCh38 |
| NC_000011.9:g.65988711C>G , CM000673.1:g.65988711C>G | GRCh37 |
| NC_000011.8:g.65745287C>G | NCBI36 |
| NG_033900.1:g.155888C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018026.4:c.1286C>G MANE Select | NP_060496.2:p.Thr429Ser |
| ENST00000320580.9:c.1286C>G MANE Select | ENSP00000316454.4:p.Thr429Ser |
| NM_018026.3:c.1286C>G | NP_060496.2:p.Thr429Ser |
| ENST00000320580.8:c.1286C>G | ENSP00000316454.4:p.Thr429Ser |
| ENST00000534273.1:n.209C>G | |
| XM_011545162.1:c.965C>G | XP_011543464.1:p.Thr322Ser |
| XM_011545163.1:c.956C>G | XP_011543465.1:p.Thr319Ser |
| XM_011545164.1:c.947C>G | XP_011543466.1:p.Thr316Ser |
| XM_011545164.2:c.947C>G | XP_011543466.1:p.Thr316Ser |
| XR_001747924.1:n.1497C>G |