Linked Data
ClinVar Variation Id:
784055
ClinVar RCV Id:
RCV000965690
dbSNP Id:
rs114703312
ExAC:
5:96121672 A / C
gnomAD v2:
5-96121672-A-C
gnomAD v3:
5-96785968-A-C
gnomAD v4:
5-96785968-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96785968A>C , CM000667.2:g.96785968A>C | GRCh38 |
| NC_000005.9:g.96121672A>C , CM000667.1:g.96121672A>C | GRCh37 |
| NC_000005.8:g.96147428A>C | NCBI36 |
| NG_027839.1:g.33177T>G | |
| NG_027839.2:g.155016T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443439.7:c.1763T>G MANE Select | ENSP00000406304.2:p.Val588Gly | |
| ENST00000296754.7:c.1763T>G | ENSP00000296754.3:p.Val588Gly | |
| ENST00000443439.6:c.1763T>G | ENSP00000406304.2:p.Val588Gly | |
| ENST00000507859.1:n.426T>G | ||
| ENST00000514604.5:n.187T>G | ||
| NM_001040458.1:c.1763T>G | NP_001035548.1:p.Val588Gly | |
| NM_001198541.1:c.1763T>G | NP_001185470.1:p.Val588Gly | |
| NM_016442.3:c.1763T>G | NP_057526.3:p.Val588Gly | |
| XM_005272015.3:c.1763T>G | XP_005272072.1:p.Val588Gly | |
| XM_005272016.3:c.1763T>G | XP_005272073.1:p.Val588Gly | |
| XM_011543480.1:c.1763T>G | XP_011541782.1:p.Val588Gly | |
| XM_011543481.1:c.1763T>G | XP_011541783.1:p.Val588Gly | |
| XM_011543482.1:c.1763T>G | XP_011541784.1:p.Val588Gly | |
| XM_011543483.1:c.1763T>G | XP_011541785.1:p.Val588Gly | |
| XM_011543484.1:c.1763T>G | XP_011541786.1:p.Val588Gly | |
| XM_011543485.1:c.1763T>G | XP_011541787.1:p.Val588Gly | |
| XM_011543486.1:c.1763T>G | XP_011541788.1:p.Val588Gly | |
| XM_011543487.1:c.1763T>G | XP_011541789.1:p.Val588Gly | |
| NM_001040458.2:c.1763T>G | NP_001035548.1:p.Val588Gly | |
| NM_001198541.2:c.1763T>G | NP_001185470.1:p.Val588Gly | |
| NM_001349244.1:c.1763T>G | NP_001336173.1:p.Val588Gly | |
| NM_016442.4:c.1763T>G | NP_057526.3:p.Val588Gly | |
| XM_005272015.5:c.1763T>G | XP_005272072.1:p.Val588Gly | |
| XM_005272016.4:c.1763T>G | XP_005272073.1:p.Val588Gly | |
| XM_011543480.2:c.1763T>G | XP_011541782.1:p.Val588Gly | |
| XM_011543481.2:c.1763T>G | XP_011541783.1:p.Val588Gly | |
| XM_011543484.2:c.1763T>G | XP_011541786.1:p.Val588Gly | |
| XM_011543485.2:c.1763T>G | XP_011541787.1:p.Val588Gly | |
| XM_011543486.3:c.1763T>G | XP_011541788.1:p.Val588Gly | |
| XM_017009581.1:c.1763T>G | XP_016865070.1:p.Val588Gly | |
| XM_017009583.2:c.668T>G | XP_016865072.1:p.Val223Gly | |
| XM_024446113.1:c.1763T>G | XP_024301881.1:p.Val588Gly | |
| XR_001742119.2:n.1901T>G | ||
| XR_001742445.1:n.3925A>C | ||
| XR_001742446.1:n.1688A>C | ||
| NM_001040458.3:c.1763T>G MANE Select | NP_001035548.1:p.Val588Gly | |
| NM_001198541.3:c.1763T>G | NP_001185470.1:p.Val588Gly | |
| NM_001349244.2:c.1763T>G | NP_001336173.1:p.Val588Gly | |
| NM_016442.5:c.1763T>G | NP_057526.3:p.Val588Gly |