Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.920542C= , CM000681.2:g.920542C= | GRCh38 |
| NC_000019.9:g.920542C= , CM000681.1:g.920542C= | GRCh37 |
| NC_000019.8:g.871542C= | NCBI36 |
| NG_008277.1:g.8201C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032551.5:c.991C= MANE Select | NP_115940.2:p.Arg331= |
| ENST00000234371.10:c.991C= MANE Select | ENSP00000234371.3:p.Arg331= |
| NM_032551.4:c.991C= | NP_115940.2:p.Arg331= |
| ENST00000234371.9:c.991C= | ENSP00000234371.3:p.Arg331= |
| ENST00000606939.2:c.758C= | ENSP00000475639.1:n.758C= |
| XM_017027382.1:c.*77C= | XP_016882871.1:n.*77C= |