Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16577059G>A , CM000681.2:g.16577059G>A | GRCh38 |
| NC_000019.9:g.16687870G>A , CM000681.1:g.16687870G>A | GRCh37 |
| NC_000019.8:g.16548870G>A | NCBI36 |
| NG_031959.2:g.56146C>T , LRG_422:g.56146C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263390.8:c.771C>T MANE Select | ENSP00000263390.3:p.Asp257= | |
| ENST00000263390.7:c.771C>T | ENSP00000263390.2:p.Asp257= | |
| ENST00000409035.1:c.795C>T | ENSP00000386951.2:p.Asp265= | |
| ENST00000597244.1:n.1719C>T | ||
| ENST00000611692.4:c.415C>T | ENSP00000484490.1:n.415C>T | |
| NM_004831.3:c.771C>T | NP_004822.2:p.Asp257= | |
| XR_936359.1:n.475-1107G>A | ||
| XR_936360.1:n.303-1107G>A | ||
| XR_936359.2:n.475-1107G>A | ||
| XR_936360.2:n.304-1107G>A | ||
| NM_004831.5:c.771C>T MANE Select | NP_004822.2:p.Asp257= |