Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92639793G>A , CM000672.2:g.92639793G>A | GRCh38 |
| NC_000010.10:g.94399550G>A , CM000672.1:g.94399550G>A | GRCh37 |
| NC_000010.9:g.94389530G>A | NCBI36 |
| NG_032580.1:g.51726G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2161-1G>A MANE Select | ENSP00000260731.3:n.2161-1G>A | |
| ENST00000676621.1:c.*679-1G>A | ENSP00000503639.1:n.*679-1G>A | |
| ENST00000676647.1:c.1954-1G>A | ENSP00000503394.1:n.1954-1G>A | |
| ENST00000676757.1:c.1954-1G>A | ENSP00000504289.1:n.1954-1G>A | |
| ENST00000677720.1:c.*135-1G>A | ENSP00000504840.1:n.*135-1G>A | |
| ENST00000260731.4:c.2161-1G>A | ENSP00000260731.3:n.2161-1G>A | |
| NM_004523.3:c.2161-1G>A | NP_004514.2:n.2161-1G>A | |
| NM_004523.4:c.2161-1G>A MANE Select | NP_004514.2:n.2161-1G>A |