Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74145226A>T , CM000664.2:g.74145226A>T | GRCh38 |
| NC_000002.11:g.74372353A>T , CM000664.1:g.74372353A>T | GRCh37 |
| NC_000002.10:g.74225861A>T | NCBI36 |
| NG_031910.1:g.7687T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327428.10:c.132T>A MANE Select | ENSP00000331369.5:p.Phe44Leu | |
| ENST00000295326.4:c.132T>A | ENSP00000295326.4:p.Phe44Leu | |
| ENST00000327428.9:c.132T>A | ENSP00000331369.5:p.Phe44Leu | |
| ENST00000469676.1:n.1155T>A | ||
| ENST00000477685.5:n.283T>A | ||
| ENST00000484655.1:n.2687T>A | ||
| NM_001035505.1:c.132T>A | NP_001030582.1:p.Phe44Leu | |
| NM_212552.2:c.132T>A | NP_997717.2:p.Phe44Leu | |
| NM_212552.3:c.132T>A MANE Select | NP_997717.2:p.Phe44Leu | |
| NM_001035505.2:c.132T>A | NP_001030582.1:p.Phe44Leu |