Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38352582C>T , CM000685.2:g.38352582C>T | GRCh38 |
| NC_000023.10:g.38211835C>T , CM000685.1:g.38211835C>T | GRCh37 |
| NC_000023.9:g.38096779C>T | NCBI36 |
| NG_008471.1:g.5100C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.4:c.-115C>T | ENSP00000039007.4:n.-115C>T | |
| ENST00000465127.1:c.172-313539C>T | ENSP00000417050.1:n.172-313539C>T | |
| NM_000531.5:c.-115C>T | NP_000522.3:n.-115C>T | |
| XM_017029556.1:c.-115C>T | XP_016885045.1:n.-115C>T |