Linked Data
ClinVar Variation Id:
460732
dbSNP Id:
rs1420797541
gnomAD v2:
2-215595211-C-G
gnomAD v3:
2-214730487-C-G
gnomAD v4:
2-214730487-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730487C>G , CM000664.2:g.214730487C>G | GRCh38 |
| NC_000002.11:g.215595211C>G , CM000664.1:g.215595211C>G | GRCh37 |
| NC_000002.10:g.215303456C>G | NCBI36 |
| NG_012047.2:g.84218G>C | |
| NG_012047.3:g.84225G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1925G>C MANE Select | ENSP00000260947.4:p.Arg642Thr | |
| ENST00000421162.2:c.572G>C | ENSP00000392245.2:p.Arg191Thr | |
| ENST00000613192.2:c.180G>C | ENSP00000483275.2:p.Lys60Asn | |
| ENST00000613374.5:c.515G>C | ENSP00000484464.1:p.Arg172Thr | |
| ENST00000613706.5:c.1517G>C | ENSP00000484976.2:p.Arg506Thr | |
| ENST00000617164.5:c.1868G>C | ENSP00000480470.1:p.Arg623Thr | |
| ENST00000619009.5:c.386G>C | ENSP00000482293.1:p.Arg129Thr | |
| ENST00000650978.1:c.3300G>C | ||
| ENST00000260947.8:c.1925G>C | ENSP00000260947.4:p.Arg642Thr | |
| ENST00000421162.1:c.572G>C | ENSP00000392245.1:p.Arg191Thr | |
| ENST00000432456.5:c.22G>C | ||
| ENST00000455743.5:c.*1545G>C | ENSP00000412186.1:n.*1545G>C | |
| ENST00000471590.5:n.260G>C | ||
| ENST00000613192.1:c.95G>C | ENSP00000483275.1:p.Arg32Thr | |
| ENST00000613374.4:c.515G>C | ENSP00000484464.1:p.Arg172Thr | |
| ENST00000613706.4:c.572G>C | ENSP00000484976.1:p.Arg191Thr | |
| ENST00000617164.4:c.1868G>C | ENSP00000480470.1:p.Arg623Thr | |
| ENST00000619009.4:c.386G>C | ENSP00000482293.1:p.Arg129Thr | |
| ENST00000620057.4:c.*591G>C | ENSP00000481988.1:n.*591G>C | |
| NM_000465.3:c.1925G>C | NP_000456.2:p.Arg642Thr | |
| NM_001282543.1:c.1868G>C | NP_001269472.1:p.Arg623Thr | |
| NM_001282545.1:c.572G>C | NP_001269474.1:p.Arg191Thr | |
| NM_001282548.1:c.515G>C | NP_001269477.1:p.Arg172Thr | |
| NM_001282549.1:c.386G>C | NP_001269478.1:p.Arg129Thr | |
| NR_104212.1:n.1918G>C | ||
| NR_104215.1:n.1861G>C | ||
| NR_104216.1:n.1117G>C | ||
| XM_011511567.1:c.1871G>C | XP_011509869.1:p.Arg624Thr | |
| XM_017004613.1:c.2024G>C | XP_016860102.1:p.Arg675Thr | |
| XR_002959322.1:n.2115G>C | ||
| NM_000465.4:c.1925G>C MANE Select | NP_000456.2:p.Arg642Thr | |
| NM_001282543.2:c.1868G>C | NP_001269472.1:p.Arg623Thr | |
| NM_001282545.2:c.572G>C | NP_001269474.1:p.Arg191Thr | |
| NM_001282548.2:c.515G>C | NP_001269477.1:p.Arg172Thr | |
| NM_001282549.2:c.386G>C | NP_001269478.1:p.Arg129Thr | |
| NR_104212.2:n.1890G>C | ||
| NR_104215.2:n.1833G>C | ||
| NR_104216.2:n.1089G>C |