Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.93021742T>C , CM000677.2:g.93021742T>C | GRCh38 |
| NC_000015.9:g.93564972T>C , CM000677.1:g.93564972T>C | GRCh37 |
| NC_000015.8:g.91365976T>C | NCBI36 |
| NG_012826.1:g.126422T>C | |
| NG_012826.2:g.126422T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001271.4:c.5153+1484T>C MANE Select | NP_001262.3:n.5153+1484T>C |
| ENST00000394196.9:c.5153+1484T>C MANE Select | ENSP00000377747.4:n.5153+1484T>C |
| NM_001271.3:c.5153+1484T>C | NP_001262.3:n.5153+1484T>C |
| ENST00000394196.8:c.5153+1484T>C | ENSP00000377747.4:n.5153+1484T>C |
| ENST00000625662.2:c.1556+1484T>C | |
| ENST00000625662.3:c.4773+1484T>C | |
| ENST00000626874.2:c.*1417T>C | ENSP00000486629.1:n.*1417T>C |
| ENST00000627460.1:c.389+1484T>C |