Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.39920010C>A , CM000670.2:g.39920010C>A | GRCh38 |
| NC_000008.10:g.39777529C>A , CM000670.1:g.39777529C>A | GRCh37 |
| NC_000008.9:g.39896686C>A | NCBI36 |
| NG_028155.1:g.11202C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002164.6:c.423-90C>A MANE Select | NP_002155.1:n.423-90C>A |
| ENST00000518237.6:c.423-90C>A MANE Select | ENSP00000430950.1:n.423-90C>A |
| NM_002164.5:c.423-90C>A | NP_002155.1:n.423-90C>A |
| ENST00000253513.11:c.433+1066C>A | ENSP00000253513.7:n.433+1066C>A |
| ENST00000518237.5:c.423-90C>A | ENSP00000430950.1:n.423-90C>A |
| ENST00000519154.5:c.423-90C>A | ENSP00000428716.1:n.423-90C>A |
| ENST00000521636.1:n.326-90C>A | |
| ENST00000522495.5:c.423-90C>A | ENSP00000430505.1:n.423-90C>A |