Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74145228A>G , CM000664.2:g.74145228A>G | GRCh38 |
| NC_000002.11:g.74372355A>G , CM000664.1:g.74372355A>G | GRCh37 |
| NC_000002.10:g.74225863A>G | NCBI36 |
| NG_031910.1:g.7685T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327428.10:c.130T>C MANE Select | ENSP00000331369.5:p.Phe44Leu | |
| ENST00000295326.4:c.130T>C | ENSP00000295326.4:p.Phe44Leu | |
| ENST00000327428.9:c.130T>C | ENSP00000331369.5:p.Phe44Leu | |
| ENST00000469676.1:n.1153T>C | ||
| ENST00000477685.5:n.281T>C | ||
| ENST00000484655.1:n.2685T>C | ||
| NM_001035505.1:c.130T>C | NP_001030582.1:p.Phe44Leu | |
| NM_212552.2:c.130T>C | NP_997717.2:p.Phe44Leu | |
| NM_212552.3:c.130T>C MANE Select | NP_997717.2:p.Phe44Leu | |
| NM_001035505.2:c.130T>C | NP_001030582.1:p.Phe44Leu |