Linked Data
ClinVar Variation Id:
634832
ClinVar RCV Id:
RCV000785635
dbSNP Id:
rs1562923253
gnomAD v4:
7-117642526-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642526T>A , CM000669.2:g.117642526T>A | GRCh38 |
| NC_000007.13:g.117282580T>A , CM000669.1:g.117282580T>A | GRCh37 |
| NC_000007.12:g.117069816T>A | NCBI36 |
| NG_016465.4:g.181743T>A , LRG_663:g.181743T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*15T>A | ENSP00000497673.2:n.*15T>A | |
| ENST00000647978.2:c.*3520T>A | ENSP00000497658.1:n.*3520T>A | |
| ENST00000649781.2:c.3623T>A | ENSP00000497203.1:p.Ile1208Asn | |
| ENST00000685018.2:c.3806T>A | ENSP00000510194.2:p.Ile1269Asn | |
| ENST00000687278.2:c.*459T>A | ENSP00000509593.2:n.*459T>A | |
| ENST00000699585.1:c.*15T>A | ENSP00000514456.1:n.*15T>A | |
| ENST00000699598.1:c.3806T>A | ENSP00000514467.1:p.Ile1269Asn | |
| ENST00000699599.1:c.3806T>A | ENSP00000514468.1:p.Ile1269Asn | |
| ENST00000699600.1:c.*467T>A | ENSP00000514469.1:n.*467T>A | |
| ENST00000699601.1:c.*2181T>A | ENSP00000514470.1:n.*2181T>A | |
| ENST00000699602.1:c.3800T>A | ENSP00000514471.1:p.Ile1267Asn | |
| ENST00000699604.1:c.*3630T>A | ENSP00000514472.1:n.*3630T>A | |
| ENST00000699605.1:c.3380T>A | ENSP00000514473.1:p.Ile1127Asn | |
| ENST00000685018.1:c.554T>A | ENSP00000510194.1:p.Ile185Asn | |
| ENST00000687278.1:c.1593T>A | ENSP00000509593.1:n.1593T>A | |
| ENST00000689011.1:c.388T>A | ||
| ENST00000003084.11:c.3806T>A MANE Select | ENSP00000003084.6:p.Ile1269Asn | |
| ENST00000647720.1:c.1256T>A | ||
| ENST00000649781.1:c.3623T>A | ENSP00000497203.1:p.Ile1208Asn | |
| ENST00000003084.10:c.3806T>A | ENSP00000003084.6:p.Ile1269Asn | |
| ENST00000426809.5:c.3716T>A | ENSP00000389119.1:p.Ile1239Asn | |
| NM_000492.3:c.3806T>A , LRG_663t1:c.3806T>A | NP_000483.3:p.Ile1269Asn | |
| XM_011515751.1:c.3896T>A | XP_011514053.1:p.Ile1299Asn | |
| XM_011515752.1:c.3896T>A | XP_011514054.1:p.Ile1299Asn | |
| XM_011515753.1:c.3563T>A | XP_011514055.1:p.Ile1188Asn | |
| XM_011515754.1:c.3563T>A | XP_011514056.1:p.Ile1188Asn | |
| NM_000492.4:c.3806T>A MANE Select | NP_000483.3:p.Ile1269Asn |