Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011430T>C , CM000682.2:g.46011430T>C | GRCh38 |
| NC_000020.10:g.44640069T>C , CM000682.1:g.44640069T>C | GRCh37 |
| NC_000020.9:g.44073476T>C | NCBI36 |
| NG_011468.1:g.7523T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.823+114T>C MANE Select | ENSP00000361405.3:n.823+114T>C | |
| NM_004994.2:c.823+114T>C | NP_004985.2:n.823+114T>C | |
| NM_004994.3:c.823+114T>C MANE Select | NP_004985.2:n.823+114T>C |