Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251731A>C , CM000681.2:g.2251731A>C | GRCh38 |
| NC_000019.9:g.2251730A>C , CM000681.1:g.2251730A>C | GRCh37 |
| NC_000019.8:g.2202730A>C | NCBI36 |
| NG_012190.1:g.7618A>C | |
| NG_032853.1:g.9693T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1457A>C MANE Select | ENSP00000221496.2:p.Asn486Thr | |
| ENST00000221496.4:c.1457A>C | ENSP00000221496.2:p.Asn486Thr | |
| NM_000479.3:c.1457A>C | NP_000470.2:p.Asn486Thr | |
| NM_000479.4:c.1457A>C | NP_000470.2:p.Asn486Thr | |
| NM_000479.5:c.1457A>C MANE Select | NP_000470.3:p.Asn486Thr |