Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9980687A>G , CM000681.2:g.9980687A>G | GRCh38 |
| NC_000019.9:g.10091363A>G , CM000681.1:g.10091363A>G | GRCh37 |
| NC_000019.8:g.9952363A>G | NCBI36 |
| NG_046943.1:g.34852T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015719.4:c.2565T>C MANE Select | NP_056534.2:p.Asp855= |
| ENST00000264828.4:c.2565T>C MANE Select | ENSP00000264828.3:p.Asp855= |
| NM_015719.3:c.2565T>C | NP_056534.2:p.Asp855= |
| ENST00000264828.3:c.2565T>C | ENSP00000264828.3:p.Asp855= |
| XM_011528042.1:c.2562T>C | XP_011526344.1:p.Asp854= |
| XM_011528042.2:c.2562T>C | XP_011526344.1:p.Asp854= |
| XM_017026849.2:c.228T>C | XP_016882338.1:p.Asp76= |