Linked Data
ClinVar Variation Id:
1517715
ClinVar RCV Id:
RCV002027553
dbSNP Id:
rs199588991
ExAC:
22:19164440 G / A
gnomAD v2:
22-19164440-G-A
gnomAD v3:
22-19176927-G-A
gnomAD v4:
22-19176927-G-A
COSMIC:
COSM4582182
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176927G>A , CM000684.2:g.19176927G>A | GRCh38 |
| NC_000022.10:g.19164440G>A , CM000684.1:g.19164440G>A | GRCh37 |
| NC_000022.9:g.17544440G>A | NCBI36 |
| NG_033863.1:g.6937C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.550C>T MANE Select | ENSP00000215882.5:p.Leu184Phe | |
| ENST00000215882.9:c.550C>T | ENSP00000215882.5:p.Leu184Phe | |
| ENST00000451283.5:c.241C>T | ENSP00000401480.1:p.Leu81Phe | |
| ENST00000461267.1:n.696C>T | ||
| ENST00000470922.5:n.692C>T | ||
| NM_001256534.1:c.571C>T | NP_001243463.1:p.Leu191Phe | |
| NM_001287387.1:c.241C>T | NP_001274316.1:p.Leu81Phe | |
| NM_005984.4:c.550C>T | NP_005975.1:p.Leu184Phe | |
| NR_046298.2:n.601C>T | ||
| NM_005984.5:c.550C>T MANE Select | NP_005975.1:p.Leu184Phe | |
| NM_001256534.2:c.571C>T | NP_001243463.1:p.Leu191Phe | |
| NM_001287387.2:c.241C>T | NP_001274316.1:p.Leu81Phe | |
| NR_046298.3:n.474C>T |