Linked Data
ClinVar Variation Id:
1394138
ClinVar RCV Id:
RCV001898452
dbSNP Id:
rs1470171438
gnomAD v2:
7-117282550-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642496G>C , CM000669.2:g.117642496G>C | GRCh38 |
| NC_000007.13:g.117282550G>C , CM000669.1:g.117282550G>C | GRCh37 |
| NC_000007.12:g.117069786G>C | NCBI36 |
| NG_016465.4:g.181713G>C , LRG_663:g.181713G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3576G>C | ENSP00000497673.2:p.Glu1192Asp | |
| ENST00000647978.2:c.*3490G>C | ENSP00000497658.1:n.*3490G>C | |
| ENST00000649781.2:c.3593G>C | ENSP00000497203.1:p.Arg1198Thr | |
| ENST00000685018.2:c.3776G>C | ENSP00000510194.2:p.Arg1259Thr | |
| ENST00000687278.2:c.*429G>C | ENSP00000509593.2:n.*429G>C | |
| ENST00000699585.1:c.3576G>C | ENSP00000514456.1:p.Glu1192Asp | |
| ENST00000699598.1:c.3776G>C | ENSP00000514467.1:p.Arg1259Thr | |
| ENST00000699599.1:c.3776G>C | ENSP00000514468.1:p.Arg1259Thr | |
| ENST00000699600.1:c.*437G>C | ENSP00000514469.1:n.*437G>C | |
| ENST00000699601.1:c.*2151G>C | ENSP00000514470.1:n.*2151G>C | |
| ENST00000699602.1:c.3770G>C | ENSP00000514471.1:p.Arg1257Thr | |
| ENST00000699604.1:c.*3600G>C | ENSP00000514472.1:n.*3600G>C | |
| ENST00000699605.1:c.3350G>C | ENSP00000514473.1:p.Arg1117Thr | |
| ENST00000685018.1:c.524G>C | ENSP00000510194.1:p.Arg175Thr | |
| ENST00000687278.1:c.1563G>C | ENSP00000509593.1:n.1563G>C | |
| ENST00000689011.1:c.358G>C | ||
| ENST00000003084.11:c.3776G>C MANE Select | ENSP00000003084.6:p.Arg1259Thr | |
| ENST00000647720.1:c.1226G>C | ||
| ENST00000649781.1:c.3593G>C | ENSP00000497203.1:p.Arg1198Thr | |
| ENST00000003084.10:c.3776G>C | ENSP00000003084.6:p.Arg1259Thr | |
| ENST00000426809.5:c.3686G>C | ENSP00000389119.1:p.Arg1229Thr | |
| NM_000492.3:c.3776G>C , LRG_663t1:c.3776G>C | NP_000483.3:p.Arg1259Thr | |
| XM_011515751.1:c.3866G>C | XP_011514053.1:p.Arg1289Thr | |
| XM_011515752.1:c.3866G>C | XP_011514054.1:p.Arg1289Thr | |
| XM_011515753.1:c.3533G>C | XP_011514055.1:p.Arg1178Thr | |
| XM_011515754.1:c.3533G>C | XP_011514056.1:p.Arg1178Thr | |
| NM_000492.4:c.3776G>C MANE Select | NP_000483.3:p.Arg1259Thr |