Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44372809C>A , CM000672.2:g.44372809C>A | GRCh38 |
| NC_000010.10:g.44868257C>A , CM000672.1:g.44868257C>A | GRCh37 |
| NC_000010.9:g.44188263C>A | NCBI36 |
| NG_016861.1:g.17289G>T | |
| NG_016861.2:g.17289G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000609.6:c.*519G>T | NP_000600.1:n.*519G>T |
| NM_000609.7:c.*519G>T | NP_000600.1:n.*519G>T |
| NM_001277990.1:c.*79G>T | NP_001264919.1:n.*79G>T |
| NM_001277990.2:c.*79G>T | NP_001264919.1:n.*79G>T |
| ENST00000374429.6:c.*519G>T | ENSP00000363551.2:n.*519G>T |
| ENST00000395793.7:c.*79G>T | ENSP00000379139.3:n.*79G>T |
| XR_001747171.1:n.331+5828G>T | |
| XR_001747172.1:n.331+5828G>T | |
| XR_001747173.1:n.331+5828G>T | |
| XR_001747174.1:n.331+5828G>T |