Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2289637A>G , CM000678.2:g.2289637A>G | GRCh38 |
| NC_000016.9:g.2339638A>G , CM000678.1:g.2339638A>G | GRCh37 |
| NC_000016.8:g.2279639A>G | NCBI36 |
| NG_011790.1:g.56110T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.2514-17T>C MANE Select | NP_001080.2:n.2514-17T>C |
| ENST00000301732.10:c.2514-17T>C MANE Select | ENSP00000301732.5:n.2514-17T>C |
| NM_001089.2:c.2514-17T>C | NP_001080.2:n.2514-17T>C |
| ENST00000301732.9:c.2514-17T>C | ENSP00000301732.5:n.2514-17T>C |
| ENST00000382381.7:c.2340-17T>C | ENSP00000371818.3:n.2340-17T>C |
| ENST00000563623.5:n.3077-17T>C |