Linked Data
ClinVar Variation Id:
284160
dbSNP Id:
rs200504529
ExAC:
2:27545324 G / C
gnomAD v2:
2-27545324-G-C
gnomAD v3:
2-27322457-G-C
gnomAD v4:
2-27322457-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27322457G>C , CM000664.2:g.27322457G>C | GRCh38 |
| NC_000002.11:g.27545324G>C , CM000664.1:g.27545324G>C | GRCh37 |
| NC_000002.10:g.27398828G>C | NCBI36 |
| NG_008075.1:g.5108C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.61C>G MANE Select | ENSP00000369383.1:p.Leu21Val | |
| ENST00000233545.6:c.61C>G | ENSP00000233545.2:p.Leu21Val | |
| ENST00000357186.10:c.18+1976C>G | ENSP00000349713.6:n.18+1976C>G | |
| ENST00000380044.5:c.61C>G | ENSP00000369383.1:p.Leu21Val | |
| ENST00000399052.8:c.61C>G | ENSP00000382006.4:p.Leu21Val | |
| ENST00000402310.5:c.61C>G | ENSP00000383955.1:p.Leu21Val | |
| ENST00000402722.5:c.61C>G | ENSP00000386000.1:p.Leu21Val | |
| ENST00000403262.6:c.61C>G | ENSP00000385671.1:p.Leu21Val | |
| ENST00000405076.5:c.61C>G | ENSP00000385175.1:p.Leu21Val | |
| ENST00000405983.5:c.61C>G | ENSP00000384586.1:p.Leu21Val | |
| ENST00000415514.5:c.61C>G | ENSP00000388043.1:p.Leu21Val | |
| ENST00000426513.6:c.61C>G | ENSP00000403824.2:p.Leu21Val | |
| ENST00000428910.5:c.-142C>G | ENSP00000405235.1:n.-142C>G | |
| ENST00000486898.1:n.112C>G | ||
| ENST00000494436.1:n.92C>G | ||
| ENST00000617583.4:n.87C>G | ||
| ENST00000621183.4:n.117C>G | ||
| ENST00000621470.4:n.112C>G | ||
| ENST00000622003.4:n.77C>G | ||
| NM_002437.4:c.61C>G | NP_002428.1:p.Leu21Val | |
| XM_005264326.2:c.61C>G | XP_005264383.1:p.Leu21Val | |
| XM_005264327.2:c.-64C>G | XP_005264384.1:n.-64C>G | |
| XM_006712021.2:c.-145C>G | XP_006712084.1:n.-145C>G | |
| XM_005264326.4:c.61C>G | XP_005264383.1:p.Leu21Val | |
| XM_006712021.3:c.-145C>G | XP_006712084.1:n.-145C>G | |
| XM_017004150.1:c.-3192C>G | XP_016859639.1:n.-3192C>G | |
| XM_017004151.1:c.-84C>G | XP_016859640.1:n.-84C>G | |
| XM_017004152.1:c.-221C>G | XP_016859641.1:n.-221C>G | |
| XM_024452913.1:c.-145C>G | XP_024308681.1:n.-145C>G | |
| NM_002437.5:c.61C>G MANE Select | NP_002428.1:p.Leu21Val |