Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80280306A>C , CM000672.2:g.80280306A>C | GRCh38 |
| NC_000010.10:g.82040062A>C , CM000672.1:g.82040062A>C | GRCh37 |
| NC_000010.9:g.82030042A>C | NCBI36 |
| NG_008083.1:g.14373T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.416T>G MANE Select | ENSP00000361287.3:p.Phe139Cys | |
| ENST00000372213.7:c.416T>G | ENSP00000361287.3:p.Phe139Cys | |
| ENST00000455001.1:c.227T>G | ENSP00000414961.1:p.Phe76Cys | |
| NM_000429.2:c.416T>G | NP_000420.1:p.Phe139Cys | |
| XM_005269842.3:c.416T>G | XP_005269899.1:p.Phe139Cys | |
| XM_005269843.3:c.293T>G | XP_005269900.1:p.Phe98Cys | |
| NM_000429.3:c.416T>G MANE Select | NP_000420.1:p.Phe139Cys |