Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119186069T>C , CM000666.2:g.119186069T>C | GRCh38 |
| NC_000004.11:g.120107224T>C , CM000666.1:g.120107224T>C | GRCh37 |
| NC_000004.10:g.120326672T>C | NCBI36 |
| NG_029747.1:g.55286T>C , LRG_396:g.55286T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307128.6:c.664T>C MANE Select | ENSP00000306997.6:p.Phe222Leu | |
| ENST00000307128.5:c.664T>C | ENSP00000306997.5:p.Phe222Leu | |
| NM_016599.4:c.664T>C , LRG_396t1:c.664T>C | NP_057683.1:p.Phe222Leu | |
| NM_016599.5:c.664T>C MANE Select | NP_057683.1:p.Phe222Leu |