Linked Data
ClinVar Variation Id:
205338
dbSNP Id:
rs796052396
gnomAD v2:
11-1778761-G-A
gnomAD v4:
11-1757531-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1757531G>A , CM000673.2:g.1757531G>A | GRCh38 |
| NC_000011.9:g.1778761G>A , CM000673.1:g.1778761G>A | GRCh37 |
| NC_000011.8:g.1735337G>A | NCBI36 |
| NG_008655.1:g.11462C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.497C>T MANE Select | ENSP00000236671.2:p.Ala166Val | |
| ENST00000367196.4:c.392C>T | ENSP00000356164.4:p.Ala131Val | |
| ENST00000429746.2:c.392C>T | ENSP00000402586.2:p.Ala131Val | |
| ENST00000433655.6:c.497C>T | ENSP00000404902.1:p.Ala166Val | |
| ENST00000438213.6:c.497C>T | ENSP00000415036.2:p.Ala166Val | |
| ENST00000636397.1:c.497C>T | ENSP00000489910.1:p.Ala166Val | |
| ENST00000636571.1:c.476C>T | ENSP00000490770.1:p.Ala159Val | |
| ENST00000636615.1:c.497C>T | ENSP00000490014.1:p.Ala166Val | |
| ENST00000636843.1:c.491C>T | ENSP00000490897.1:p.Ala164Val | |
| ENST00000637158.1:n.95C>T | ||
| ENST00000637381.2:n.2925C>T | ||
| ENST00000637387.1:c.497C>T | ENSP00000490598.1:p.Ala166Val | |
| ENST00000637815.2:c.497C>T | ENSP00000490344.1:p.Ala166Val | |
| ENST00000637915.1:c.497C>T | ENSP00000490471.1:p.Ala166Val | |
| ENST00000677300.1:n.892C>T | ||
| ENST00000678991.1:c.*358C>T | ENSP00000503019.1:n.*358C>T | |
| ENST00000236671.6:c.497C>T | ENSP00000236671.2:p.Ala166Val | |
| ENST00000367196.3:c.392C>T | ENSP00000356164.3:p.Ala131Val | |
| ENST00000427721.2:c.-104C>T | ENSP00000415840.2:n.-104C>T | |
| ENST00000433655.5:c.497C>T | ENSP00000404902.1:p.Ala166Val | |
| ENST00000438213.5:c.452C>T | ENSP00000415036.1:p.Ala151Val | |
| NM_001909.4:c.497C>T | NP_001900.1:p.Ala166Val | |
| NM_001909.5:c.497C>T MANE Select | NP_001900.1:p.Ala166Val |