Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1412635T>C , CM000664.2:g.1412635T>C | GRCh38 |
| NC_000002.11:g.1416407T>C , CM000664.1:g.1416407T>C | GRCh37 |
| NC_000002.10:g.1395414T>C | NCBI36 |
| NG_011581.1:g.4173T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000497517.6:n.180+38233T>C |