Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251804G>C , CM000681.2:g.2251804G>C | GRCh38 |
| NC_000019.9:g.2251803G>C , CM000681.1:g.2251803G>C | GRCh37 |
| NC_000019.8:g.2202803G>C | NCBI36 |
| NG_012190.1:g.7691G>C | |
| NG_032853.1:g.9620C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1530G>C MANE Select | ENSP00000221496.2:p.Leu510= | |
| ENST00000221496.4:c.1530G>C | ENSP00000221496.2:p.Leu510= | |
| NM_000479.3:c.1530G>C | NP_000470.2:p.Leu510= | |
| NM_000479.4:c.1530G>C | NP_000470.2:p.Leu510= | |
| NM_000479.5:c.1530G>C MANE Select | NP_000470.3:p.Leu510= |