Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.615970G>A , CM000681.2:g.615970G>A | GRCh38 |
| NC_000019.9:g.615970G>A , CM000681.1:g.615970G>A | GRCh37 |
| NC_000019.8:g.566970G>A | NCBI36 |
| NG_023049.1:g.22599C>T | |
| NG_052810.1:g.31078G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251287.3:c.2166G>A MANE Select | ENSP00000251287.1:p.Gln722= | |
| ENST00000251287.2:c.2166G>A | ENSP00000251287.1:p.Gln722= | |
| NM_001194.3:c.2166G>A | NP_001185.3:p.Gln722= | |
| NM_001194.4:c.2166G>A MANE Select | NP_001185.3:p.Gln722= |