Linked Data
ClinVar Variation Id:
448942
ClinVar RCV Id:
RCV000518853
dbSNP Id:
rs200712930
ExAC:
2:39241061 C / G
gnomAD v2:
2-39241061-C-G
gnomAD v3:
2-39013920-C-G
gnomAD v4:
2-39013920-C-G
ERepo:
CA1624490/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39013920C>G , CM000664.2:g.39013920C>G | GRCh38 |
| NC_000002.11:g.39241061C>G , CM000664.1:g.39241061C>G | GRCh37 |
| NC_000002.10:g.39094565C>G | NCBI36 |
| NG_007530.1:g.111544G>C , LRG_754:g.111544G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685279.1:c.777G>C | ENSP00000509424.1:p.Leu259Phe | |
| ENST00000688043.1:n.2231G>C | ||
| ENST00000689668.1:n.2017G>C | ||
| ENST00000690876.1:c.1899G>C | ENSP00000508955.1:p.Leu633Phe | |
| ENST00000691229.1:c.1899G>C | ENSP00000510437.1:p.Leu633Phe | |
| ENST00000692089.1:c.1899G>C | ENSP00000508626.1:p.Leu633Phe | |
| ENST00000692620.1:c.777G>C | ENSP00000509311.1:p.Leu259Phe | |
| ENST00000402219.8:c.2010G>C MANE Select | ENSP00000384675.2:p.Leu670Phe | |
| ENST00000395038.6:c.2010G>C | ENSP00000378479.2:p.Leu670Phe | |
| ENST00000402219.6:c.2010G>C | ENSP00000384675.2:p.Leu670Phe | |
| ENST00000426016.5:c.2010G>C | ENSP00000387784.1:p.Leu670Phe | |
| NM_005633.3:c.2010G>C , LRG_754t1:c.2010G>C | NP_005624.2:p.Leu670Phe | |
| XM_005264515.3:c.2010G>C | XP_005264572.1:p.Leu670Phe | |
| XM_011533060.1:c.2103G>C | XP_011531362.1:p.Leu701Phe | |
| XM_011533061.1:c.2103G>C | XP_011531363.1:p.Leu701Phe | |
| XM_011533062.1:c.1989G>C | XP_011531364.1:p.Leu663Phe | |
| XM_011533063.1:c.1986G>C | XP_011531365.1:p.Leu662Phe | |
| XM_011533064.1:c.1839G>C | XP_011531366.1:p.Leu613Phe | |
| XM_011533065.1:c.2103G>C | XP_011531367.1:p.Leu701Phe | |
| XM_011533066.1:c.945G>C | XP_011531368.1:p.Leu315Phe | |
| XM_005264515.4:c.2010G>C | XP_005264572.1:p.Leu670Phe | |
| XM_011533062.2:c.1989G>C | XP_011531364.1:p.Leu663Phe | |
| XM_011533064.2:c.1839G>C | XP_011531366.1:p.Leu613Phe | |
| NM_001382394.1:c.1989G>C | NP_001369323.1:p.Leu663Phe | |
| NM_001382395.1:c.2010G>C | NP_001369324.1:p.Leu670Phe | |
| NM_005633.4:c.2010G>C MANE Select | NP_005624.2:p.Leu670Phe |