Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112228506C>A , CM000673.2:g.112228506C>A | GRCh38 |
| NC_000011.9:g.112099229C>A , CM000673.1:g.112099229C>A | GRCh37 |
| NC_000011.8:g.111604439C>A | NCBI36 |
| NG_008743.1:g.7142C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280362.8:c.84-88C>A MANE Select | ENSP00000280362.3:n.84-88C>A | |
| ENST00000280362.7:c.84-88C>A | ENSP00000280362.3:n.84-88C>A | |
| ENST00000524931.1:c.-121-88C>A | ENSP00000434688.1:n.-121-88C>A | |
| ENST00000525645.1:n.159-88C>A | ||
| ENST00000525803.1:c.84-88C>A | ENSP00000431750.1:n.84-88C>A | |
| ENST00000528679.5:c.84-88C>A | ENSP00000435895.1:n.84-88C>A | |
| ENST00000531673.5:c.84-88C>A | ENSP00000433469.1:n.84-88C>A | |
| NM_000317.2:c.84-88C>A | NP_000308.1:n.84-88C>A | |
| NM_000317.3:c.84-88C>A MANE Select | NP_000308.1:n.84-88C>A |