Linked Data
ClinVar Variation Id:
178987
ClinVar RCV Id:
RCV000155765
dbSNP Id:
rs727504592
gnomAD v4:
21-42382069-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42382069G>C , CM000683.2:g.42382069G>C | GRCh38 |
| NC_000021.8:g.43802178G>C , CM000683.1:g.43802178G>C | GRCh37 |
| NC_000021.7:g.42675247G>C | NCBI36 |
| NG_011629.1:g.19023C>G | |
| NG_011629.2:g.19023C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433957.7:c.948C>G | ENSP00000411013.3:p.Phe316Leu | |
| ENST00000644384.2:c.948C>G MANE Select | ENSP00000494414.1:p.Phe316Leu | |
| ENST00000652415.1:c.948C>G | ENSP00000498756.1:p.Phe316Leu | |
| ENST00000291532.7:c.948C>G | ENSP00000291532.3:p.Phe316Leu | |
| ENST00000398397.3:c.948C>G | ENSP00000381434.3:p.Phe316Leu | |
| ENST00000398405.5:c.942C>G | ENSP00000381442.1:p.Phe314Leu | |
| ENST00000433957.6:c.948C>G | ENSP00000411013.2:p.Phe316Leu | |
| ENST00000474596.5:n.816C>G | ||
| ENST00000476848.5:n.1683C>G | ||
| ENST00000478680.1:n.225C>G | ||
| ENST00000482761.1:n.1235C>G | ||
| NM_001256317.1:c.948C>G | NP_001243246.1:p.Phe316Leu | |
| NM_024022.2:c.948C>G | NP_076927.1:p.Phe316Leu | |
| NM_032404.2:c.567C>G | NP_115780.1:p.Phe189Leu | |
| NM_032405.1:c.948C>G | NP_115781.1:p.Phe316Leu | |
| NR_046020.1:n.1904C>G | ||
| NM_001256317.2:c.948C>G | NP_001243246.1:p.Phe316Leu | |
| NM_024022.3:c.948C>G | NP_076927.1:p.Phe316Leu | |
| NM_032405.2:c.948C>G | NP_115781.1:p.Phe316Leu | |
| NM_001256317.3:c.948C>G MANE Select | NP_001243246.1:p.Phe316Leu | |
| NM_024022.4:c.948C>G | NP_076927.1:p.Phe316Leu | |
| NM_032404.3:c.567C>G | NP_115780.1:p.Phe189Leu |