Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65956032A>G , CM000674.2:g.65956032A>G | GRCh38 |
| NC_000012.11:g.66349812A>G , CM000674.1:g.66349812A>G | GRCh37 |
| NC_000012.10:g.64636079A>G | NCBI36 |
| NG_016296.1:g.136573A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003483.6:c.282+4617A>G MANE Select | NP_003474.1:n.282+4617A>G |
| ENST00000403681.7:c.282+4617A>G MANE Select | ENSP00000384026.2:n.282+4617A>G |
| NM_003483.4:c.282+4617A>G | NP_003474.1:n.282+4617A>G |
| ENST00000403681.6:c.282+4617A>G | ENSP00000384026.2:n.282+4617A>G |
| ENST00000539662.1:c.319+4617A>G | ENSP00000440919.1:n.319+4617A>G |
| ENST00000541363.5:c.*4599A>G | ENSP00000439317.1:n.*4599A>G |