Linked Data
ClinVar Variation Id:
439082
dbSNP Id:
rs777892053
ExAC:
7:117304863 G / A
gnomAD v2:
7-117304863-G-A
gnomAD v4:
7-117664809-G-A
COSMIC:
COSM6471574
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117664809G>A , CM000669.2:g.117664809G>A | GRCh38 |
| NC_000007.13:g.117304863G>A , CM000669.1:g.117304863G>A | GRCh37 |
| NC_000007.12:g.117092099G>A | NCBI36 |
| NG_016465.4:g.204026G>A , LRG_663:g.204026G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*294G>A | ENSP00000497673.2:n.*294G>A | |
| ENST00000647978.2:c.*3799G>A | ENSP00000497658.1:n.*3799G>A | |
| ENST00000649781.2:c.3902G>A | ENSP00000497203.1:p.Ser1301Asn | |
| ENST00000685018.2:c.*298G>A | ENSP00000510194.2:n.*298G>A | |
| ENST00000687278.2:c.*738G>A | ENSP00000509593.2:n.*738G>A | |
| ENST00000699585.1:c.*294G>A | ENSP00000514456.1:n.*294G>A | |
| ENST00000699598.1:c.4085G>A | ENSP00000514467.1:p.Ser1362Asn | |
| ENST00000699599.1:c.*298G>A | ENSP00000514468.1:n.*298G>A | |
| ENST00000699600.1:c.*746G>A | ENSP00000514469.1:n.*746G>A | |
| ENST00000699601.1:c.*2460G>A | ENSP00000514470.1:n.*2460G>A | |
| ENST00000699602.1:c.4079G>A | ENSP00000514471.1:p.Ser1360Asn | |
| ENST00000699604.1:c.*3909G>A | ENSP00000514472.1:n.*3909G>A | |
| ENST00000699605.1:c.3659G>A | ENSP00000514473.1:p.Ser1220Asn | |
| ENST00000699606.1:n.2253G>A | ||
| ENST00000685018.1:c.949G>A | ENSP00000510194.1:n.949G>A | |
| ENST00000687278.1:c.1872G>A | ENSP00000509593.1:n.1872G>A | |
| ENST00000689011.1:c.667G>A | ||
| ENST00000003084.11:c.4085G>A MANE Select | ENSP00000003084.6:p.Ser1362Asn | |
| ENST00000647720.1:c.1535G>A | ||
| ENST00000649781.1:c.3902G>A | ENSP00000497203.1:p.Ser1301Asn | |
| ENST00000003084.10:c.4085G>A | ENSP00000003084.6:p.Ser1362Asn | |
| ENST00000426809.5:c.3995G>A | ENSP00000389119.1:p.Ser1332Asn | |
| ENST00000600166.1:c.211G>A | ||
| NM_000492.3:c.4085G>A , LRG_663t1:c.4085G>A | NP_000483.3:p.Ser1362Asn | |
| XM_011515751.1:c.4175G>A | XP_011514053.1:p.Ser1392Asn | |
| XM_011515752.1:c.4175G>A | XP_011514054.1:p.Ser1392Asn | |
| XM_011515753.1:c.3842G>A | XP_011514055.1:p.Ser1281Asn | |
| XM_011515754.1:c.3842G>A | XP_011514056.1:p.Ser1281Asn | |
| NM_000492.4:c.4085G>A MANE Select | NP_000483.3:p.Ser1362Asn |