Linked Data
ClinVar Variation Id:
3231912
ClinVar RCV Id:
RCV004518627
dbSNP Id:
rs1327206717
gnomAD v2:
7-117306976-C-A
gnomAD v4:
7-117666922-C-A
COSMIC:
COSM4607969
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117666922C>A , CM000669.2:g.117666922C>A | GRCh38 |
| NC_000007.13:g.117306976C>A , CM000669.1:g.117306976C>A | GRCh37 |
| NC_000007.12:g.117094212C>A | NCBI36 |
| NG_016465.4:g.206139C>A , LRG_663:g.206139C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*466C>A | ENSP00000497673.2:n.*466C>A | |
| ENST00000647978.2:c.*3971C>A | ENSP00000497658.1:n.*3971C>A | |
| ENST00000649781.2:c.4074C>A | ENSP00000497203.1:p.Asn1358Lys | |
| ENST00000685018.2:c.*470C>A | ENSP00000510194.2:n.*470C>A | |
| ENST00000687278.2:c.*896-680C>A | ENSP00000509593.2:n.*896-680C>A | |
| ENST00000699585.1:c.*726C>A | ENSP00000514456.1:n.*726C>A | |
| ENST00000699598.1:c.4250C>A | ENSP00000514467.1:p.Thr1417Lys | |
| ENST00000699599.1:c.*470C>A | ENSP00000514468.1:n.*470C>A | |
| ENST00000699600.1:c.*904-680C>A | ENSP00000514469.1:n.*904-680C>A | |
| ENST00000699601.1:c.*2632C>A | ENSP00000514470.1:n.*2632C>A | |
| ENST00000699602.1:c.4251C>A | ENSP00000514471.1:p.Asn1417Lys | |
| ENST00000699604.1:c.*4081C>A | ENSP00000514472.1:n.*4081C>A | |
| ENST00000699605.1:c.3831C>A | ENSP00000514473.1:p.Asn1277Lys | |
| ENST00000699606.1:n.3768C>A | ||
| ENST00000685018.1:c.1121C>A | ENSP00000510194.1:n.1121C>A | |
| ENST00000687278.1:c.2030-680C>A | ENSP00000509593.1:n.2030-680C>A | |
| ENST00000689011.1:c.1099C>A | ||
| ENST00000003084.11:c.4257C>A MANE Select | ENSP00000003084.6:p.Asn1419Lys | |
| ENST00000647720.1:c.1707C>A | ||
| ENST00000649781.1:c.4074C>A | ENSP00000497203.1:p.Asn1358Lys | |
| ENST00000003084.10:c.4257C>A | ENSP00000003084.6:p.Asn1419Lys | |
| ENST00000426809.5:c.4167C>A | ENSP00000389119.1:p.Asn1389Lys | |
| ENST00000600166.1:c.368+1358C>A | ||
| NM_000492.3:c.4257C>A , LRG_663t1:c.4257C>A | NP_000483.3:p.Asn1419Lys | |
| XM_011515751.1:c.4347C>A | XP_011514053.1:p.Asn1449Lys | |
| XM_011515753.1:c.4014C>A | XP_011514055.1:p.Asn1338Lys | |
| XM_011515754.1:c.4014C>A | XP_011514056.1:p.Asn1338Lys | |
| NM_000492.4:c.4257C>A MANE Select | NP_000483.3:p.Asn1419Lys |