dbSNP:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103479238C>G , CM000673.2:g.103479238C>G | GRCh38 |
| NC_000011.9:g.103349966C>G , CM000673.1:g.103349966C>G | GRCh37 |
| NC_000011.8:g.102855176C>G | NCBI36 |
| NG_016423.1:g.374807C>G | |
| NG_016423.2:g.374808C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.12930C>G MANE Plus Clinical | ENSP00000497174.1:p.Phe4310Leu | |
| ENST00000375735.7:c.12909C>G MANE Select | ENSP00000364887.2:p.Phe4303Leu | |
| ENST00000650373.1:c.12930C>G | ENSP00000497174.1:p.Phe4310Leu | |
| ENST00000334267.11:c.2748C>G | ENSP00000334021.7:p.Phe916Leu | |
| ENST00000375735.6:c.12909C>G | ENSP00000364887.2:p.Phe4303Leu | |
| ENST00000398093.7:c.12930C>G | ENSP00000381167.3:p.Phe4310Leu | |
| ENST00000527252.1:n.461C>G | ||
| ENST00000528670.5:c.2092C>G | ENSP00000433451.1:n.2092C>G | |
| ENST00000530547.1:n.640C>G | ||
| ENST00000533197.1:c.660C>G | ENSP00000436736.1:p.Phe220Leu | |
| NM_001080463.1:c.12930C>G | NP_001073932.1:p.Phe4310Leu | |
| NM_001377.2:c.12909C>G | NP_001368.2:p.Phe4303Leu | |
| XM_006718903.2:c.12888C>G | XP_006718966.1:p.Phe4296Leu | |
| XM_017018291.1:c.12699C>G | XP_016873780.1:p.Phe4233Leu | |
| XM_017018292.1:c.12291C>G | XP_016873781.1:p.Phe4097Leu | |
| NM_001377.3:c.12909C>G MANE Select | NP_001368.2:p.Phe4303Leu | |
| NM_001080463.2:c.12930C>G MANE Plus Clinical | NP_001073932.1:p.Phe4310Leu |