Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31120802A>G , CM000668.2:g.31120802A>G | GRCh38 |
| NC_000006.11:g.31088579A>G , CM000668.1:g.31088579A>G | GRCh37 |
| NC_000006.10:g.31196558A>G | NCBI36 |
| NG_012192.1:g.4645T>C | |
| NG_021348.1:g.10972A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014068.3:c.-228-4874A>G MANE Select | NP_054787.2:n.-228-4874A>G |
| ENST00000259881.10:c.-228-4874A>G MANE Select | ENSP00000259881.9:n.-228-4874A>G |
| NM_014068.2:c.-228-4874A>G | NP_054787.2:n.-228-4874A>G |
| ENST00000259881.9:c.-228-4874A>G | ENSP00000259881.9:n.-228-4874A>G |
| ENST00000479581.5:n.61+5911A>G | |
| ENST00000548049.1:n.120-4877A>G | |
| ENST00000550838.1:n.59-4937A>G | |
| ENST00000552747.1:n.53+5911A>G |