Linked Data
ClinVar Variation Id:
7136
ClinVar RCV Id:
RCV000007556
RCV000224445
RCV001004513
RCV001831530
RCV002255995
RCV002287325
RCV003473015
dbSNP Id:
rs80034486
ExAC:
7:117292931 C / G
gnomAD v2:
7-117292931-C-G
gnomAD v3:
7-117652877-C-G
gnomAD v4:
7-117652877-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117652877C>G , CM000669.2:g.117652877C>G | GRCh38 |
| NC_000007.13:g.117292931C>G , CM000669.1:g.117292931C>G | GRCh37 |
| NC_000007.12:g.117080167C>G | NCBI36 |
| NG_016465.4:g.192094C>G , LRG_663:g.192094C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*118C>G | ENSP00000497673.2:n.*118C>G | |
| ENST00000647978.2:c.*3623C>G | ENSP00000497658.1:n.*3623C>G | |
| ENST00000649781.2:c.3726C>G | ENSP00000497203.1:p.Asn1242Lys | |
| ENST00000685018.2:c.*122C>G | ENSP00000510194.2:n.*122C>G | |
| ENST00000687278.2:c.*562C>G | ENSP00000509593.2:n.*562C>G | |
| ENST00000699585.1:c.*118C>G | ENSP00000514456.1:n.*118C>G | |
| ENST00000699598.1:c.3909C>G | ENSP00000514467.1:p.Asn1303Lys | |
| ENST00000699599.1:c.*122C>G | ENSP00000514468.1:n.*122C>G | |
| ENST00000699600.1:c.*570C>G | ENSP00000514469.1:n.*570C>G | |
| ENST00000699601.1:c.*2284C>G | ENSP00000514470.1:n.*2284C>G | |
| ENST00000699602.1:c.3903C>G | ENSP00000514471.1:p.Asn1301Lys | |
| ENST00000699604.1:c.*3733C>G | ENSP00000514472.1:n.*3733C>G | |
| ENST00000699605.1:c.3483C>G | ENSP00000514473.1:p.Asn1161Lys | |
| ENST00000699606.1:n.2077C>G | ||
| ENST00000685018.1:c.773C>G | ENSP00000510194.1:n.773C>G | |
| ENST00000687278.1:c.1696C>G | ENSP00000509593.1:n.1696C>G | |
| ENST00000689011.1:c.491C>G | ||
| ENST00000003084.11:c.3909C>G MANE Select | ENSP00000003084.6:p.Asn1303Lys | |
| ENST00000647720.1:c.1359C>G | ||
| ENST00000649781.1:c.3726C>G | ENSP00000497203.1:p.Asn1242Lys | |
| ENST00000003084.10:c.3909C>G | ENSP00000003084.6:p.Asn1303Lys | |
| ENST00000426809.5:c.3819C>G | ENSP00000389119.1:p.Asn1273Lys | |
| ENST00000600166.1:c.35C>G | ||
| NM_000492.3:c.3909C>G , LRG_663t1:c.3909C>G | NP_000483.3:p.Asn1303Lys | |
| XM_011515751.1:c.3999C>G | XP_011514053.1:p.Asn1333Lys | |
| XM_011515752.1:c.3999C>G | XP_011514054.1:p.Asn1333Lys | |
| XM_011515753.1:c.3666C>G | XP_011514055.1:p.Asn1222Lys | |
| XM_011515754.1:c.3666C>G | XP_011514056.1:p.Asn1222Lys | |
| NM_000492.4:c.3909C>G MANE Select | NP_000483.3:p.Asn1303Lys |