Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46853731C= , CM000685.2:g.46853731C= | GRCh38 |
| NC_000023.10:g.46713166C= , CM000685.1:g.46713166C= | GRCh37 |
| NC_000023.9:g.46598110C= | NCBI36 |
| NG_009107.1:g.21820C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006915.3:c.358C= MANE Select | NP_008846.2:p.Arg120= |
| ENST00000218340.4:c.358C= MANE Select | ENSP00000218340.3:p.Arg120= |
| NM_006915.2:c.358C= | NP_008846.2:p.Arg120= |
| ENST00000218340.3:c.358C= | ENSP00000218340.3:p.Arg120= |