Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38352555G>A , CM000685.2:g.38352555G>A | GRCh38 |
| NC_000023.10:g.38211808G>A , CM000685.1:g.38211808G>A | GRCh37 |
| NC_000023.9:g.38096752G>A | NCBI36 |
| NG_008471.1:g.5073G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.4:c.-142G>A | ENSP00000039007.4:n.-142G>A | |
| ENST00000465127.1:c.172-313566G>A | ENSP00000417050.1:n.172-313566G>A | |
| NM_000531.5:c.-142G>A | NP_000522.3:n.-142G>A | |
| XM_017029556.1:c.-142G>A | XP_016885045.1:n.-142G>A |