Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32823522C>T , CM000668.2:g.32823522C>T | GRCh38 |
| NC_000006.11:g.32791299C>T , CM000668.1:g.32791299C>T | GRCh37 |
| NC_000006.10:g.32899277C>T | NCBI36 |
| NG_009793.3:g.20249G>A | |
| NG_009793.4:g.20249G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018833.2:c.1933-1204G>A | NP_061313.2:n.1933-1204G>A |
| NM_018833.3:c.1933-1204G>A | NP_061313.2:n.1933-1204G>A |
| ENST00000374899.8:c.1933-1204G>A | ENSP00000364034.4:n.1933-1204G>A |
| ENST00000452392.2:c.1932+5878G>A | ENSP00000391806.2:n.1932+5878G>A |
| ENST00000652259.1:c.1933-1204G>A | ENSP00000498827.1:n.1933-1204G>A |