Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.89350773C>A , CM000674.2:g.89350773C>A | GRCh38 |
| NC_000012.11:g.89744550C>A , CM000674.1:g.89744550C>A | GRCh37 |
| NC_000012.10:g.88268681C>A | NCBI36 |
| NG_033915.1:g.7087G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279488.8:c.653G>T MANE Select | ENSP00000279488.6:p.Cys218Phe | |
| ENST00000279488.7:c.653G>T | ENSP00000279488.6:p.Cys218Phe | |
| ENST00000308385.6:c.400+867G>T | ENSP00000307835.6:n.400+867G>T | |
| ENST00000547140.1:n.339G>T | ||
| ENST00000547291.1:c.278G>T | ENSP00000449838.1:p.Cys93Phe | |
| NM_001946.3:c.653G>T | NP_001937.2:p.Cys218Phe | |
| NM_022652.3:c.400+867G>T | NP_073143.2:n.400+867G>T | |
| NM_001946.4:c.653G>T MANE Select | NP_001937.2:p.Cys218Phe | |
| NM_022652.4:c.400+867G>T | NP_073143.2:n.400+867G>T |