Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086027C= , CM000679.2:g.8086027C= | GRCh38 |
| NC_000017.10:g.7989345C= , CM000679.1:g.7989345C= | GRCh37 |
| NC_000017.9:g.7930070C= | NCBI36 |
| NG_007099.1:g.6677G= | |
| NG_007099.2:g.6690G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.341G= MANE Select | ENSP00000497784.1:p.Arg114= | |
| ENST00000319144.4:c.341G= | ENSP00000315167.4:p.Arg114= | |
| NM_001139.2:c.341G= | NP_001130.1:p.Arg114= | |
| NM_001139.3:c.341G= MANE Select | NP_001130.1:p.Arg114= |