Linked Data
ClinVar Variation Id:
2093641
ClinVar RCV Id:
RCV003010087
dbSNP Id:
rs1374338567
gnomAD v3:
1-43364444-G-C
gnomAD v4:
1-43364444-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43364444G>C , CM000663.2:g.43364444G>C | GRCh38 |
| NC_000001.10:g.43830115G>C , CM000663.1:g.43830115G>C | GRCh37 |
| NC_000001.9:g.43602702G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372458.8:c.498C>G MANE Select | ENSP00000361536.3:p.Phe166Leu | |
| ENST00000372458.7:c.498C>G | ENSP00000361536.3:p.Phe166Leu | |
| ENST00000413844.3:c.417C>G | ENSP00000416024.2:p.Phe139Leu | |
| ENST00000464204.5:n.532C>G | ||
| ENST00000468865.6:n.267C>G | ||
| ENST00000470769.5:n.832C>G | ||
| ENST00000470968.6:n.500+294C>G | ||
| ENST00000478481.5:n.467C>G | ||
| ENST00000482302.5:n.741C>G | ||
| ENST00000487209.5:n.406C>G | ||
| ENST00000497050.5:n.765C>G | ||
| ENST00000497569.5:n.566C>G | ||
| ENST00000621943.4:c.498C>G | ENSP00000477602.1:p.Phe166Leu | |
| NM_001256399.1:c.498C>G | NP_001243328.1:p.Phe166Leu | |
| NM_001256401.1:c.417C>G | NP_001243330.1:p.Phe139Leu | |
| NM_001256402.1:c.255C>G | NP_001243331.1:p.Phe85Leu | |
| NM_022821.3:c.498C>G | NP_073732.1:p.Phe166Leu | |
| NR_046117.1:n.599C>G | ||
| NM_022821.4:c.498C>G MANE Select | NP_073732.1:p.Phe166Leu | |
| NM_001256402.2:c.255C>G | NP_001243331.1:p.Phe85Leu | |
| NR_046117.2:n.536C>G | ||
| NM_001256399.2:c.498C>G | NP_001243328.1:p.Phe166Leu | |
| NM_001256401.2:c.417C>G | NP_001243330.1:p.Phe139Leu |