Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74763405C>A , CM000679.2:g.74763405C>A | GRCh38 |
| NC_000017.10:g.72759544C>A , CM000679.1:g.72759544C>A | GRCh37 |
| NC_000017.9:g.70271139C>A | NCBI36 |
| NG_013022.1:g.19782C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262613.10:c.642C>A MANE Select | ENSP00000262613.5:p.Asp214Glu | |
| ENST00000262613.9:c.642C>A | ENSP00000262613.5:p.Asp214Glu | |
| ENST00000413388.2:c.174C>A | ENSP00000464982.1:p.Asp58Glu | |
| ENST00000578958.1:n.376C>A | ||
| ENST00000583369.5:c.442-4742C>A | ENSP00000464321.1:n.442-4742C>A | |
| NM_004252.4:c.642C>A | NP_004243.1:p.Asp214Glu | |
| XR_002958087.1:n.861C>A | ||
| NM_004252.5:c.642C>A MANE Select | NP_004243.1:p.Asp214Glu |