Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786051C>A , CM000681.2:g.18786051C>A | GRCh38 |
| NC_000019.9:g.18896861C>A , CM000681.1:g.18896861C>A | GRCh37 |
| NC_000019.8:g.18757861C>A | NCBI36 |
| NG_007070.1:g.10254G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222271.7:c.1403G>T MANE Select | ENSP00000222271.2:p.Cys468Phe | |
| ENST00000222271.6:c.1403G>T | ENSP00000222271.2:p.Cys468Phe | |
| ENST00000425807.1:c.1244G>T | ENSP00000403792.1:p.Cys415Phe | |
| ENST00000542601.6:c.1304G>T | ENSP00000439156.2:p.Cys435Phe | |
| NM_000095.2:c.1403G>T | NP_000086.2:p.Cys468Phe | |
| NM_000095.3:c.1403G>T MANE Select | NP_000086.2:p.Cys468Phe |