Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.90912983A>C , CM000672.2:g.90912983A>C | GRCh38 |
| NC_000010.10:g.92672740A>C , CM000672.1:g.92672740A>C | GRCh37 |
| NC_000010.9:g.92662720A>C | NCBI36 |
| NG_023227.1:g.13293T>G , LRG_379:g.13293T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371697.4:c.850-7T>G MANE Select | ENSP00000360762.3:n.850-7T>G | |
| ENST00000371697.3:c.850-7T>G | ENSP00000360762.3:n.850-7T>G | |
| NM_014391.2:c.850-7T>G , LRG_379t1:c.850-7T>G | NP_055206.2:n.850-7T>G | |
| NM_014391.3:c.850-7T>G MANE Select | NP_055206.2:n.850-7T>G |