Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454550T>C , CM000679.2:g.7454550T>C | GRCh38 |
| NC_000017.10:g.7357869T>C , CM000679.1:g.7357869T>C | GRCh37 |
| NC_000017.9:g.7298593T>C | NCBI36 |
| NG_008026.1:g.14464T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1044+30T>C MANE Select | ENSP00000304290.2:n.1044+30T>C | |
| ENST00000306071.6:c.1044+30T>C | ENSP00000304290.2:n.1044+30T>C | |
| ENST00000536404.6:c.828+30T>C | ENSP00000439209.2:n.828+30T>C | |
| ENST00000570557.5:c.707+30T>C | ||
| ENST00000573209.1:n.1988+30T>C | ||
| ENST00000576360.1:c.681+30T>C | ENSP00000459092.1:n.681+30T>C | |
| NM_000747.2:c.1044+30T>C | NP_000738.2:n.1044+30T>C | |
| NM_000747.3:c.1044+30T>C MANE Select | NP_000738.2:n.1044+30T>C |