Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.70463773G= , CM000666.2:g.70463773G= | GRCh38 |
| NC_000004.11:g.71329490G= , CM000666.1:g.71329490G= | GRCh37 |
| NC_000004.10:g.71364079G= | NCBI36 |
| NG_012348.1:g.38282G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413702.5:c.-92-8442G= | ENSP00000407422.1:n.-92-8442G= | |
| ENST00000515308.6:n.197-8442G= | ||
| NM_001145006.1:c.-92-8442G= | NP_001138478.1:n.-92-8442G= | |
| NM_001145006.2:c.-92-8442G= | NP_001138478.1:n.-92-8442G= |