Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154154734C>T , CM000685.2:g.154154734C>T | GRCh38 |
| NC_000023.10:g.153420209C>T , CM000685.1:g.153420209C>T | GRCh37 |
| NC_000023.9:g.153073403C>T | NCBI36 |
| NG_009105.2:g.15484C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020061.6:c.739C>T MANE Select | NP_064445.2:p.Arg247Ter |
| ENST00000369951.9:c.739C>T MANE Select | ENSP00000358967.4:p.Arg247Ter |
| NM_020061.5:c.739C>T | NP_064445.2:p.Arg247Ter |
| ENST00000369951.8:c.739C>T | ENSP00000358967.4:p.Arg247Ter |
| ENST00000442922.1:c.328C>T | ENSP00000402493.1:p.Arg110Ter |
| ENST00000463296.1:n.589-1560C>T |