Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251349G>C , CM000681.2:g.2251349G>C | GRCh38 |
| NC_000019.9:g.2251348G>C , CM000681.1:g.2251348G>C | GRCh37 |
| NC_000019.8:g.2202348G>C | NCBI36 |
| NG_012190.1:g.7236G>C | |
| NG_032853.1:g.10075C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1075G>C MANE Select | ENSP00000221496.2:p.Asp359His | |
| ENST00000221496.4:c.1075G>C | ENSP00000221496.2:p.Asp359His | |
| ENST00000589313.2:n.1428G>C | ||
| NM_000479.3:c.1075G>C | NP_000470.2:p.Asp359His | |
| NM_000479.4:c.1075G>C | NP_000470.2:p.Asp359His | |
| NM_000479.5:c.1075G>C MANE Select | NP_000470.3:p.Asp359His |