Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.615992C>T , CM000681.2:g.615992C>T | GRCh38 |
| NC_000019.9:g.615992C>T , CM000681.1:g.615992C>T | GRCh37 |
| NC_000019.8:g.566992C>T | NCBI36 |
| NG_023049.1:g.22577G>A | |
| NG_052810.1:g.31100C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251287.3:c.2188C>T MANE Select | ENSP00000251287.1:p.Leu730= | |
| ENST00000251287.2:c.2188C>T | ENSP00000251287.1:p.Leu730= | |
| NM_001194.3:c.2188C>T | NP_001185.3:p.Leu730= | |
| NM_001194.4:c.2188C>T MANE Select | NP_001185.3:p.Leu730= |