Linked Data
ClinVar Variation Id:
1683255
ClinVar RCV Id:
RCV002238576
dbSNP Id:
rs121909041
gnomAD v2:
7-117282537-T-A
gnomAD v3:
7-117642483-T-A
gnomAD v4:
7-117642483-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642483T>A , CM000669.2:g.117642483T>A | GRCh38 |
| NC_000007.13:g.117282537T>A , CM000669.1:g.117282537T>A | GRCh37 |
| NC_000007.12:g.117069773T>A | NCBI36 |
| NG_016465.4:g.181700T>A , LRG_663:g.181700T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3563T>A | ENSP00000497673.2:p.Ile1188Asn | |
| ENST00000647978.2:c.*3477T>A | ENSP00000497658.1:n.*3477T>A | |
| ENST00000649781.2:c.3580T>A | ENSP00000497203.1:p.Ser1194Thr | |
| ENST00000685018.2:c.3763T>A | ENSP00000510194.2:p.Ser1255Thr | |
| ENST00000687278.2:c.*416T>A | ENSP00000509593.2:n.*416T>A | |
| ENST00000699585.1:c.3563T>A | ENSP00000514456.1:p.Ile1188Asn | |
| ENST00000699598.1:c.3763T>A | ENSP00000514467.1:p.Ser1255Thr | |
| ENST00000699599.1:c.3763T>A | ENSP00000514468.1:p.Ser1255Thr | |
| ENST00000699600.1:c.*424T>A | ENSP00000514469.1:n.*424T>A | |
| ENST00000699601.1:c.*2138T>A | ENSP00000514470.1:n.*2138T>A | |
| ENST00000699602.1:c.3757T>A | ENSP00000514471.1:p.Ser1253Thr | |
| ENST00000699604.1:c.*3587T>A | ENSP00000514472.1:n.*3587T>A | |
| ENST00000699605.1:c.3337T>A | ENSP00000514473.1:p.Ser1113Thr | |
| ENST00000685018.1:c.511T>A | ENSP00000510194.1:p.Ser171Thr | |
| ENST00000687278.1:c.1550T>A | ENSP00000509593.1:n.1550T>A | |
| ENST00000689011.1:c.345T>A | ||
| ENST00000003084.11:c.3763T>A MANE Select | ENSP00000003084.6:p.Ser1255Thr | |
| ENST00000647720.1:c.1213T>A | ||
| ENST00000649781.1:c.3580T>A | ENSP00000497203.1:p.Ser1194Thr | |
| ENST00000003084.10:c.3763T>A | ENSP00000003084.6:p.Ser1255Thr | |
| ENST00000426809.5:c.3673T>A | ENSP00000389119.1:p.Ser1225Thr | |
| NM_000492.3:c.3763T>A , LRG_663t1:c.3763T>A | NP_000483.3:p.Ser1255Thr | |
| XM_011515751.1:c.3853T>A | XP_011514053.1:p.Ser1285Thr | |
| XM_011515752.1:c.3853T>A | XP_011514054.1:p.Ser1285Thr | |
| XM_011515753.1:c.3520T>A | XP_011514055.1:p.Ser1174Thr | |
| XM_011515754.1:c.3520T>A | XP_011514056.1:p.Ser1174Thr | |
| NM_000492.4:c.3763T>A MANE Select | NP_000483.3:p.Ser1255Thr |