Linked Data
dbSNP Id:
rs2124485787
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787172C>G , CM000686.2:g.2787172C>G | GRCh38 |
| NC_000024.9:g.2655213C>G , CM000686.1:g.2655213C>G | GRCh37 |
| NC_000024.8:g.2715213C>G | NCBI36 |
| NG_011751.1:g.5580G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12433C>G | ||
| ENST00000679825.1:n.284C>G | ||
| ENST00000680285.1:n.320-2577C>G | ||
| ENST00000680845.1:n.165+119C>G | ||
| ENST00000681787.1:n.106+12433C>G | ||
| ENST00000681940.1:n.106+12433C>G | ||
| ENST00000383070.2:c.432G>C MANE Select | ENSP00000372547.1:p.Leu144Phe | |
| ENST00000383070.1:c.432G>C | ENSP00000372547.1:p.Leu144Phe | |
| NM_003140.2:c.432G>C | NP_003131.1:p.Leu144Phe | |
| NM_003140.3:c.432G>C MANE Select | NP_003131.1:p.Leu144Phe |