Linked Data
ClinVar Variation Id:
92627
dbSNP Id:
rs11934801
ExAC:
4:996555 G / C
gnomAD v2:
4-996555-G-C
gnomAD v3:
4-1002767-G-C
gnomAD v4:
4-1002767-G-C
PubMed:
PMID:8328452
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002767G>C , CM000666.2:g.1002767G>C | GRCh38 |
| NC_000004.11:g.996555G>C , CM000666.1:g.996555G>C | GRCh37 |
| NC_000004.10:g.986555G>C | NCBI36 |
| NG_008103.1:g.20771G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1225G>C | ENSP00000247933.4:p.Gly409Arg | |
| ENST00000514224.2:c.1225G>C MANE Select | ENSP00000425081.2:p.Gly409Arg | |
| ENST00000652070.1:n.1281G>C | ||
| ENST00000247933.8:c.1225G>C | ENSP00000247933.4:p.Gly409Arg | |
| ENST00000502829.1:n.27G>C | ||
| ENST00000514224.1:c.829G>C | ENSP00000425081.1:p.Gly277Arg | |
| ENST00000514698.5:n.1332G>C | ||
| NM_000203.4:c.1225G>C | NP_000194.2:p.Gly409Arg | |
| NR_110313.1:n.1313G>C | ||
| XM_006713882.2:c.829G>C | XP_006713945.1:p.Gly277Arg | |
| XM_011513459.1:c.1291G>C | XP_011511761.1:p.Gly431Arg | |
| XM_011513460.1:c.1084G>C | XP_011511762.1:p.Gly362Arg | |
| XM_011513461.1:c.1018G>C | XP_011511763.1:p.Gly340Arg | |
| XM_011513462.1:c.937G>C | XP_011511764.1:p.Gly313Arg | |
| XM_011513463.1:c.937G>C | XP_011511765.1:p.Gly313Arg | |
| XR_924947.1:n.1294G>C | ||
| NM_000203.5:c.1225G>C MANE Select | NP_000194.2:p.Gly409Arg | |
| NM_001363576.1:c.829G>C | NP_001350505.1:p.Gly277Arg | |
| XM_011513461.2:c.1018G>C | XP_011511763.1:p.Gly340Arg | |
| XM_017008163.1:c.265G>C | XP_016863652.1:p.Gly89Arg |