Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216289392C>A , CM000663.2:g.216289392C>A | GRCh38 |
| NC_000001.10:g.216462734C>A , CM000663.1:g.216462734C>A | GRCh37 |
| NC_000001.9:g.214529357C>A | NCBI36 |
| NG_009497.1:g.139005G>T | |
| NG_009497.2:g.139057G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.1859G>T MANE Select | NP_996816.3:p.Cys620Phe |
| ENST00000307340.8:c.1859G>T MANE Select | ENSP00000305941.3:p.Cys620Phe |
| NM_007123.5:c.1859G>T | NP_009054.5:p.Cys620Phe |
| NM_007123.6:c.1859G>T | NP_009054.6:p.Cys620Phe |
| NM_206933.2:c.1859G>T | NP_996816.2:p.Cys620Phe |
| NM_206933.3:c.1859G>T | NP_996816.2:p.Cys620Phe |
| ENST00000307340.7:c.1859G>T | ENSP00000305941.3:p.Cys620Phe |
| ENST00000366942.3:c.1859G>T | ENSP00000355909.3:p.Cys620Phe |
| ENST00000674083.1:c.1859G>T | ENSP00000501296.1:p.Cys620Phe |