Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66221239A>T , CM000673.2:g.66221239A>T | GRCh38 |
| NC_000011.9:g.65988710A>T , CM000673.1:g.65988710A>T | GRCh37 |
| NC_000011.8:g.65745286A>T | NCBI36 |
| NG_033900.1:g.155887A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018026.4:c.1285A>T MANE Select | NP_060496.2:p.Thr429Ser |
| ENST00000320580.9:c.1285A>T MANE Select | ENSP00000316454.4:p.Thr429Ser |
| NM_018026.3:c.1285A>T | NP_060496.2:p.Thr429Ser |
| ENST00000320580.8:c.1285A>T | ENSP00000316454.4:p.Thr429Ser |
| ENST00000534273.1:n.208A>T | |
| XM_011545162.1:c.964A>T | XP_011543464.1:p.Thr322Ser |
| XM_011545163.1:c.955A>T | XP_011543465.1:p.Thr319Ser |
| XM_011545164.1:c.946A>T | XP_011543466.1:p.Thr316Ser |
| XM_011545164.2:c.946A>T | XP_011543466.1:p.Thr316Ser |
| XR_001747924.1:n.1496A>T |