Linked Data
ClinVar Variation Id:
2210411
ClinVar RCV Id:
RCV004074946
dbSNP Id:
rs2082428052
gnomAD v4:
16-31476905-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31476905C>G , CM000678.2:g.31476905C>G | GRCh38 |
| NC_000016.9:g.31488226C>G , CM000678.1:g.31488226C>G | GRCh37 |
| NC_000016.8:g.31395727C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394863.8:c.1014C>G MANE Select | ENSP00000378332.3:p.Phe338Leu | |
| ENST00000361773.7:c.963C>G | ENSP00000355117.3:p.Phe321Leu | |
| ENST00000394858.6:c.963C>G | ENSP00000378327.2:p.Phe321Leu | |
| ENST00000394863.7:c.1014C>G | ENSP00000378332.3:p.Phe338Leu | |
| ENST00000563712.6:c.*685C>G | ENSP00000459283.1:n.*685C>G | |
| ENST00000564176.5:n.4219C>G | ||
| ENST00000564804.1:c.*530C>G | ENSP00000454688.1:n.*530C>G | |
| ENST00000567066.6:c.*739C>G | ENSP00000456341.2:n.*739C>G | |
| ENST00000567607.5:c.963C>G | ENSP00000457586.1:p.Phe321Leu | |
| NM_001042454.2:c.1014C>G | NP_001035919.1:p.Phe338Leu | |
| NM_001164719.1:c.963C>G | NP_001158191.1:p.Phe321Leu | |
| NM_015927.4:c.963C>G | NP_057011.2:p.Phe321Leu | |
| XM_024450412.1:c.963C>G | XP_024306180.1:p.Phe321Leu | |
| NM_001042454.3:c.1014C>G MANE Select | NP_001035919.1:p.Phe338Leu | |
| NM_015927.5:c.963C>G | NP_057011.2:p.Phe321Leu |