Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446914T>C , CM000666.2:g.39446914T>C | GRCh38 |
| NC_000004.11:g.39448534T>C , CM000666.1:g.39448534T>C | GRCh37 |
| NC_000004.10:g.39124929T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257408.5:c.2188T>C MANE Select | ENSP00000257408.4:p.Phe730Leu | |
| ENST00000257408.4:c.2188T>C | ENSP00000257408.4:p.Phe730Leu | |
| NM_175737.3:c.2188T>C | NP_783864.1:p.Phe730Leu | |
| XM_005262644.1:c.2161T>C | XP_005262701.1:p.Phe721Leu | |
| NM_175737.4:c.2188T>C MANE Select | NP_783864.1:p.Phe730Leu |