Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120787349T>A , CM000669.2:g.120787349T>A | GRCh38 |
| NC_000007.13:g.120427403T>A , CM000669.1:g.120427403T>A | GRCh37 |
| NC_000007.12:g.120214639T>A | NCBI36 |
| NG_023203.1:g.75775A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012338.4:c.*1243A>T MANE Select | NP_036470.1:n.*1243A>T |
| ENST00000222747.8:c.*1243A>T MANE Select | ENSP00000222747.3:n.*1243A>T |
| NM_012338.3:c.*1243A>T | NP_036470.1:n.*1243A>T |
| ENST00000222747.7:c.*1243A>T | ENSP00000222747.3:n.*1243A>T |
| XM_005250239.1:c.*1243A>T | XP_005250296.1:n.*1243A>T |
| XM_005250239.3:c.*1243A>T | XP_005250296.1:n.*1243A>T |
| XM_011515993.1:c.*1243A>T | XP_011514295.1:n.*1243A>T |
| XM_011515994.1:c.*1243A>T | XP_011514296.1:n.*1243A>T |
| XM_017011913.1:c.*1243A>T | XP_016867402.1:n.*1243A>T |