Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154154734C= , CM000685.2:g.154154734C= | GRCh38 |
| NC_000023.10:g.153420209C= , CM000685.1:g.153420209C= | GRCh37 |
| NC_000023.9:g.153073403C= | NCBI36 |
| NG_009105.2:g.15484C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020061.6:c.739C= MANE Select | NP_064445.2:p.Arg247= |
| ENST00000369951.9:c.739C= MANE Select | ENSP00000358967.4:p.Arg247= |
| NM_020061.5:c.739C= | NP_064445.2:p.Arg247= |
| ENST00000369951.8:c.739C= | ENSP00000358967.4:p.Arg247= |
| ENST00000442922.1:c.328C= | ENSP00000402493.1:p.Arg110= |
| ENST00000463296.1:n.589-1560C= |