Linked Data
dbSNP Id:
rs776717734
ExAC:
20:948696 G / C
gnomAD v2:
20-948696-G-C
gnomAD v4:
20-968053-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.968053G>C , CM000682.2:g.968053G>C | GRCh38 |
| NC_000020.10:g.948696G>C , CM000682.1:g.948696G>C | GRCh37 |
| NC_000020.9:g.896696G>C | NCBI36 |
| NG_013043.1:g.39212C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217260.9:c.165C>G MANE Select | ENSP00000217260.4:p.Phe55Leu | |
| ENST00000217260.8:c.165C>G | ENSP00000217260.4:p.Phe55Leu | |
| ENST00000400634.2:c.165C>G | ENSP00000383475.2:p.Phe55Leu | |
| NM_001029871.3:c.165C>G | NP_001025042.2:p.Phe55Leu | |
| NM_001040007.2:c.165C>G | NP_001035096.1:p.Phe55Leu | |
| XM_011529232.1:c.213C>G | XP_011527534.1:p.Phe71Leu | |
| XM_011529233.1:c.213C>G | XP_011527535.1:p.Phe71Leu | |
| XR_937068.1:n.285C>G | ||
| XR_937069.1:n.280C>G | ||
| XM_017027839.1:c.165C>G | XP_016883328.1:p.Phe55Leu | |
| NM_001029871.4:c.165C>G MANE Select | NP_001025042.2:p.Phe55Leu | |
| NM_001040007.3:c.165C>G | NP_001035096.1:p.Phe55Leu |