Linked Data
ClinVar Variation Id:
1506026
ClinVar RCV Id:
RCV001999667
dbSNP Id:
rs587781507
gnomAD v4:
2-214752544-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214752544C>A , CM000664.2:g.214752544C>A | GRCh38 |
| NC_000002.11:g.215617268C>A , CM000664.1:g.215617268C>A | GRCh37 |
| NC_000002.10:g.215325513C>A | NCBI36 |
| NG_012047.2:g.62161G>T | |
| NG_012047.3:g.62168G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1580G>T MANE Select | ENSP00000260947.4:p.Gly527Val | |
| ENST00000421162.2:c.227G>T | ENSP00000392245.2:p.Gly76Val | |
| ENST00000613192.2:c.159-22036G>T | ENSP00000483275.2:n.159-22036G>T | |
| ENST00000613374.5:c.170G>T | ENSP00000484464.1:p.Gly57Val | |
| ENST00000613706.5:c.1172G>T | ENSP00000484976.2:p.Gly391Val | |
| ENST00000617164.5:c.1523G>T | ENSP00000480470.1:p.Gly508Val | |
| ENST00000619009.5:c.365-22036G>T | ENSP00000482293.1:n.365-22036G>T | |
| ENST00000650978.1:c.2955G>T | ||
| ENST00000260947.8:c.1580G>T | ENSP00000260947.4:p.Gly527Val | |
| ENST00000421162.1:c.227G>T | ENSP00000392245.1:p.Gly76Val | |
| ENST00000455743.5:c.*1200G>T | ENSP00000412186.1:n.*1200G>T | |
| ENST00000613192.1:c.74-22036G>T | ENSP00000483275.1:n.74-22036G>T | |
| ENST00000613374.4:c.170G>T | ENSP00000484464.1:p.Gly57Val | |
| ENST00000613706.4:c.227G>T | ENSP00000484976.1:p.Gly76Val | |
| ENST00000617164.4:c.1523G>T | ENSP00000480470.1:p.Gly508Val | |
| ENST00000619009.4:c.365-22036G>T | ENSP00000482293.1:n.365-22036G>T | |
| ENST00000620057.4:c.*246G>T | ENSP00000481988.1:n.*246G>T | |
| NM_000465.3:c.1580G>T | NP_000456.2:p.Gly527Val | |
| NM_001282543.1:c.1523G>T | NP_001269472.1:p.Gly508Val | |
| NM_001282545.1:c.227G>T | NP_001269474.1:p.Gly76Val | |
| NM_001282548.1:c.170G>T | NP_001269477.1:p.Gly57Val | |
| NM_001282549.1:c.365-22036G>T | NP_001269478.1:n.365-22036G>T | |
| NR_104212.1:n.1573G>T | ||
| NR_104215.1:n.1516G>T | ||
| NR_104216.1:n.772G>T | ||
| XM_011511567.1:c.1526G>T | XP_011509869.1:p.Gly509Val | |
| XM_011511568.1:c.1580G>T | XP_011509870.1:p.Gly527Val | |
| XM_017004613.1:c.1679G>T | XP_016860102.1:p.Gly560Val | |
| XM_017004614.1:c.1679G>T | XP_016860103.1:p.Gly560Val | |
| XR_002959322.1:n.1770G>T | ||
| NM_000465.4:c.1580G>T MANE Select | NP_000456.2:p.Gly527Val | |
| NM_001282543.2:c.1523G>T | NP_001269472.1:p.Gly508Val | |
| NM_001282545.2:c.227G>T | NP_001269474.1:p.Gly76Val | |
| NM_001282548.2:c.170G>T | NP_001269477.1:p.Gly57Val | |
| NM_001282549.2:c.365-22036G>T | NP_001269478.1:n.365-22036G>T | |
| NR_104212.2:n.1545G>T | ||
| NR_104215.2:n.1488G>T | ||
| NR_104216.2:n.744G>T |