Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436721C>A , CM000678.2:g.67436721C>A | GRCh38 |
| NC_000016.9:g.67470624C>A , CM000678.1:g.67470624C>A | GRCh37 |
| NC_000016.8:g.66028125C>A | NCBI36 |
| NG_011482.1:g.49466G>T | |
| NG_016549.1:g.10589C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.936C>A MANE Select | ENSP00000316786.5:p.Arg312= | |
| ENST00000326152.5:c.936C>A | ENSP00000316786.5:p.Arg312= | |
| NM_000196.3:c.936C>A | NP_000187.3:p.Arg312= | |
| NM_000196.4:c.936C>A MANE Select | NP_000187.3:p.Arg312= |