Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242469A>T , CM000684.2:g.20242469A>T | GRCh38 |
| NC_000022.10:g.20229992A>T , CM000684.1:g.20229992A>T | GRCh37 |
| NC_000022.9:g.18609992A>T | NCBI36 |
| NG_012176.1:g.30825T>A | |
| NG_012176.2:g.30825T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.664T>A MANE Select | ENSP00000043402.7:p.Phe222Ile | |
| ENST00000043402.7:c.664T>A | ENSP00000043402.7:p.Phe222Ile | |
| ENST00000416372.5:c.723T>A | ||
| ENST00000425986.1:c.921T>A | ||
| NM_023004.5:c.664T>A | NP_075380.1:p.Phe222Ile | |
| NM_023004.6:c.664T>A MANE Select | NP_075380.1:p.Phe222Ile |