Linked Data
ClinVar Variation Id:
7113
ClinVar RCV Id:
RCV000007533
RCV000224789
RCV000780134
RCV001004262
RCV001831521
RCV002504762
RCV003473005
dbSNP Id:
rs80055610
ExAC:
7:117227887 G / C
gnomAD v2:
7-117227887-G-C
gnomAD v3:
7-117587833-G-C
gnomAD v4:
7-117587833-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117587833G>C , CM000669.2:g.117587833G>C | GRCh38 |
| NC_000007.13:g.117227887G>C , CM000669.1:g.117227887G>C | GRCh37 |
| NC_000007.12:g.117015123G>C | NCBI36 |
| NG_016465.4:g.127050G>C , LRG_663:g.127050G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.1679G>C | ENSP00000497673.2:p.Arg560Thr | |
| ENST00000647978.2:c.*1393G>C | ENSP00000497658.1:n.*1393G>C | |
| ENST00000649781.2:c.1496G>C | ENSP00000497203.1:p.Arg499Thr | |
| ENST00000685018.2:c.1679G>C | ENSP00000510194.2:p.Arg560Thr | |
| ENST00000687278.2:c.1679G>C | ENSP00000509593.2:p.Arg560Thr | |
| ENST00000699585.1:c.1679G>C | ENSP00000514456.1:p.Arg560Thr | |
| ENST00000699598.1:c.1679G>C | ENSP00000514467.1:p.Arg560Thr | |
| ENST00000699599.1:c.1679G>C | ENSP00000514468.1:p.Arg560Thr | |
| ENST00000699600.1:c.1679G>C | ENSP00000514469.1:p.Arg560Thr | |
| ENST00000699601.1:c.1679G>C | ENSP00000514470.1:p.Ser560Thr | |
| ENST00000699602.1:c.1679G>C | ENSP00000514471.1:p.Arg560Thr | |
| ENST00000699604.1:c.*1503G>C | ENSP00000514472.1:n.*1503G>C | |
| ENST00000699605.1:c.1253G>C | ENSP00000514473.1:p.Arg418Thr | |
| ENST00000003084.11:c.1679G>C MANE Select | ENSP00000003084.6:p.Arg560Thr | |
| ENST00000647978.1:c.*1393G>C | ENSP00000497658.1:n.*1393G>C | |
| ENST00000648260.1:c.1402-14993G>C | ENSP00000497957.1:n.1402-14993G>C | |
| ENST00000649406.1:c.1496G>C | ENSP00000497965.1:p.Arg499Thr | |
| ENST00000649781.1:c.1496G>C | ENSP00000497203.1:p.Arg499Thr | |
| ENST00000003084.10:c.1679G>C | ENSP00000003084.6:p.Arg560Thr | |
| ENST00000426809.5:c.1589G>C | ENSP00000389119.1:p.Arg530Thr | |
| NM_000492.3:c.1679G>C , LRG_663t1:c.1679G>C | NP_000483.3:p.Arg560Thr | |
| XM_011515751.1:c.1769G>C | XP_011514053.1:p.Arg590Thr | |
| XM_011515752.1:c.1769G>C | XP_011514054.1:p.Arg590Thr | |
| XM_011515753.1:c.1436G>C | XP_011514055.1:p.Arg479Thr | |
| XM_011515754.1:c.1436G>C | XP_011514056.1:p.Arg479Thr | |
| NM_000492.4:c.1679G>C MANE Select | NP_000483.3:p.Arg560Thr |