Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186079310A>G , CM000666.2:g.186079310A>G | GRCh38 |
| NC_000004.11:g.187000464A>G , CM000666.1:g.187000464A>G | GRCh37 |
| NC_000004.10:g.187237458A>G | NCBI36 |
| NG_007278.1:g.15156A>G , LRG_117:g.15156A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003265.3:c.633+279A>G MANE Select | NP_003256.1:n.633+279A>G |
| ENST00000296795.8:c.633+279A>G MANE Select | ENSP00000296795.3:n.633+279A>G |
| NM_003265.2:c.633+279A>G , LRG_117t1:c.633+279A>G | NP_003256.1:n.633+279A>G |
| ENST00000296795.7:c.633+279A>G | ENSP00000296795.2:n.633+279A>G |
| ENST00000513189.1:c.633+279A>G | ENSP00000423386.1:n.633+279A>G |
| ENST00000698351.1:c.633+279A>G | ENSP00000513674.1:n.633+279A>G |
| ENST00000698352.1:c.*185+279A>G | ENSP00000513675.1:n.*185+279A>G |