Linked Data
ClinVar Variation Id:
921264
ClinVar RCV Id:
RCV001180538
dbSNP Id:
rs72658891
gnomAD v3:
1-55043987-C-T
gnomAD v4:
1-55043987-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55043987C>T , CM000663.2:g.55043987C>T | GRCh38 |
| NC_000001.10:g.55509660C>T , CM000663.1:g.55509660C>T | GRCh37 |
| NC_000001.9:g.55282248C>T | NCBI36 |
| NG_009061.1:g.9441C>T , LRG_275:g.9441C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.352C>T | ENSP00000501161.2:p.Leu118Phe | |
| ENST00000710286.1:c.709C>T | ENSP00000518176.1:p.Leu237Phe | |
| ENST00000673662.1:n.22C>T | ||
| ENST00000673726.1:c.352C>T | ENSP00000501004.1:p.Leu118Phe | |
| ENST00000673903.1:c.-24C>T | ENSP00000501257.1:n.-24C>T | |
| ENST00000302118.5:c.352C>T MANE Select | ENSP00000303208.5:p.Leu118Phe | |
| NM_174936.3:c.352C>T , LRG_275t1:c.352C>T | NP_777596.2:p.Leu118Phe | |
| NR_110451.1:n.182+3584C>T | ||
| NM_174936.4:c.352C>T MANE Select | NP_777596.2:p.Leu118Phe | |
| NR_110451.2:n.182+3584C>T |