Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528683C= , CM000681.2:g.7528683C= | GRCh38 |
| NC_000019.9:g.7593569C= , CM000681.1:g.7593569C= | GRCh37 |
| NC_000019.8:g.7499569C= | NCBI36 |
| NG_015806.1:g.11074C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.964C= MANE Select | NP_065394.1:p.Arg322= |
| ENST00000264079.11:c.964C= MANE Select | ENSP00000264079.5:p.Arg322= |
| NM_020533.2:c.964C= | NP_065394.1:p.Arg322= |
| ENST00000264079.10:c.964C= | ENSP00000264079.5:p.Arg322= |
| ENST00000394321.9:n.1279C= | |
| ENST00000595860.5:n.30C= |