Linked Data
ClinVar Variation Id:
53339
ClinVar RCV Id:
RCV000576677
dbSNP Id:
rs397508267
ExAC:
7:117230407 A / C
gnomAD v2:
7-117230407-A-C
gnomAD v4:
7-117590353-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117590353A>C , CM000669.2:g.117590353A>C | GRCh38 |
| NC_000007.13:g.117230407A>C , CM000669.1:g.117230407A>C | GRCh37 |
| NC_000007.12:g.117017643A>C | NCBI36 |
| NG_016465.4:g.129570A>C , LRG_663:g.129570A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.1680A>C | ENSP00000497673.2:p.Arg560Ser | |
| ENST00000647978.2:c.*1394A>C | ENSP00000497658.1:n.*1394A>C | |
| ENST00000649781.2:c.1497A>C | ENSP00000497203.1:p.Arg499Ser | |
| ENST00000685018.2:c.1680A>C | ENSP00000510194.2:p.Arg560Ser | |
| ENST00000687278.2:c.1680A>C | ENSP00000509593.2:p.Arg560Ser | |
| ENST00000699585.1:c.1680A>C | ENSP00000514456.1:p.Arg560Ser | |
| ENST00000699598.1:c.1680A>C | ENSP00000514467.1:p.Arg560Ser | |
| ENST00000699599.1:c.1680A>C | ENSP00000514468.1:p.Arg560Ser | |
| ENST00000699600.1:c.1680A>C | ENSP00000514469.1:p.Arg560Ser | |
| ENST00000699601.1:c.1680-5A>C | ENSP00000514470.1:n.1680-5A>C | |
| ENST00000699602.1:c.1680A>C | ENSP00000514471.1:p.Arg560Ser | |
| ENST00000699604.1:c.*1504A>C | ENSP00000514472.1:n.*1504A>C | |
| ENST00000699605.1:c.1254A>C | ENSP00000514473.1:p.Arg418Ser | |
| ENST00000003084.11:c.1680A>C MANE Select | ENSP00000003084.6:p.Arg560Ser | |
| ENST00000647978.1:c.*1394A>C | ENSP00000497658.1:n.*1394A>C | |
| ENST00000648260.1:c.1402-12473A>C | ENSP00000497957.1:n.1402-12473A>C | |
| ENST00000649406.1:c.1497A>C | ENSP00000497965.1:p.Arg499Ser | |
| ENST00000649781.1:c.1497A>C | ENSP00000497203.1:p.Arg499Ser | |
| ENST00000003084.10:c.1680A>C | ENSP00000003084.6:p.Arg560Ser | |
| ENST00000426809.5:c.1590A>C | ENSP00000389119.1:p.Arg530Ser | |
| NM_000492.3:c.1680A>C , LRG_663t1:c.1680A>C | NP_000483.3:p.Arg560Ser | |
| XM_011515751.1:c.1770A>C | XP_011514053.1:p.Arg590Ser | |
| XM_011515752.1:c.1770A>C | XP_011514054.1:p.Arg590Ser | |
| XM_011515753.1:c.1437A>C | XP_011514055.1:p.Arg479Ser | |
| XM_011515754.1:c.1437A>C | XP_011514056.1:p.Arg479Ser | |
| NM_000492.4:c.1680A>C MANE Select | NP_000483.3:p.Arg560Ser |