Linked Data
ClinVar Variation Id:
40686
ClinVar RCV Id:
RCV000223591
RCV000521508
RCV000986622
RCV001529772
RCV001813290
RCV002408499
RCV003227623
RCV003924888
dbSNP Id:
rs200786705
ExAC:
2:39249864 G / C
gnomAD v2:
2-39249864-G-C
gnomAD v3:
2-39022723-G-C
gnomAD v4:
2-39022723-G-C
ERepo:
CA1624560/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022723G>C , CM000664.2:g.39022723G>C | GRCh38 |
| NC_000002.11:g.39249864G>C , CM000664.1:g.39249864G>C | GRCh37 |
| NC_000002.10:g.39103368G>C | NCBI36 |
| NG_007530.1:g.102741C>G , LRG_754:g.102741C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1585C>G | ||
| ENST00000685279.1:c.472C>G | ENSP00000509424.1:p.Leu158Val | |
| ENST00000688043.1:n.1926C>G | ||
| ENST00000689668.1:n.1712C>G | ||
| ENST00000690876.1:c.1594C>G | ENSP00000508955.1:p.Leu532Val | |
| ENST00000691229.1:c.1594C>G | ENSP00000510437.1:p.Leu532Val | |
| ENST00000692089.1:c.1594C>G | ENSP00000508626.1:p.Leu532Val | |
| ENST00000692620.1:c.472C>G | ENSP00000509311.1:p.Leu158Val | |
| ENST00000402219.8:c.1705C>G MANE Select | ENSP00000384675.2:p.Leu569Val | |
| ENST00000395038.6:c.1705C>G | ENSP00000378479.2:p.Leu569Val | |
| ENST00000402219.6:c.1705C>G | ENSP00000384675.2:p.Leu569Val | |
| ENST00000426016.5:c.1705C>G | ENSP00000387784.1:p.Leu569Val | |
| NM_005633.3:c.1705C>G , LRG_754t1:c.1705C>G | NP_005624.2:p.Leu569Val | |
| XM_005264515.3:c.1705C>G | XP_005264572.1:p.Leu569Val | |
| XM_011533060.1:c.1798C>G | XP_011531362.1:p.Leu600Val | |
| XM_011533061.1:c.1798C>G | XP_011531363.1:p.Leu600Val | |
| XM_011533062.1:c.1684C>G | XP_011531364.1:p.Leu562Val | |
| XM_011533063.1:c.1681C>G | XP_011531365.1:p.Leu561Val | |
| XM_011533064.1:c.1534C>G | XP_011531366.1:p.Leu512Val | |
| XM_011533065.1:c.1798C>G | XP_011531367.1:p.Leu600Val | |
| XM_011533066.1:c.640C>G | XP_011531368.1:p.Leu214Val | |
| XM_005264515.4:c.1705C>G | XP_005264572.1:p.Leu569Val | |
| XM_011533062.2:c.1684C>G | XP_011531364.1:p.Leu562Val | |
| XM_011533064.2:c.1534C>G | XP_011531366.1:p.Leu512Val | |
| NM_001382394.1:c.1684C>G | NP_001369323.1:p.Leu562Val | |
| NM_001382395.1:c.1705C>G | NP_001369324.1:p.Leu569Val | |
| NM_005633.4:c.1705C>G MANE Select | NP_005624.2:p.Leu569Val |