Linked Data
ClinVar Variation Id:
373281
ClinVar RCV Id:
RCV000412883
dbSNP Id:
rs1057518324
gnomAD v3:
11-1753864-G-A
gnomAD v4:
11-1753864-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753864G>A , CM000673.2:g.1753864G>A | GRCh38 |
| NC_000011.9:g.1775094G>A , CM000673.1:g.1775094G>A | GRCh37 |
| NC_000011.8:g.1731670G>A | NCBI36 |
| NG_008655.1:g.15129C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1010C>T MANE Select | ENSP00000236671.2:p.Ala337Val | |
| ENST00000367196.4:c.905C>T | ENSP00000356164.4:p.Ala302Val | |
| ENST00000427721.3:c.435C>T | ||
| ENST00000429746.2:c.905C>T | ENSP00000402586.2:p.Ala302Val | |
| ENST00000433655.6:c.*176C>T | ENSP00000404902.1:n.*176C>T | |
| ENST00000438213.6:c.1127C>T | ENSP00000415036.2:p.Ala376Val | |
| ENST00000497544.3:n.718C>T | ||
| ENST00000636397.1:c.1010C>T | ENSP00000489910.1:p.Ala337Val | |
| ENST00000636571.1:c.989C>T | ENSP00000490770.1:p.Ala330Val | |
| ENST00000636579.1:c.11C>T | ENSP00000490489.1:p.Ala4Val | |
| ENST00000636615.1:c.1010C>T | ENSP00000490014.1:p.Ala337Val | |
| ENST00000636843.1:c.1004C>T | ENSP00000490897.1:p.Ala335Val | |
| ENST00000637158.1:n.608C>T | ||
| ENST00000637381.2:n.3438C>T | ||
| ENST00000637387.1:c.989C>T | ENSP00000490598.1:p.Ala330Val | |
| ENST00000637815.2:c.992C>T | ENSP00000490344.1:p.Ala331Val | |
| ENST00000637915.1:c.1010C>T | ENSP00000490471.1:p.Ala337Val | |
| ENST00000637937.1:n.318C>T | ||
| ENST00000678991.1:c.*871C>T | ENSP00000503019.1:n.*871C>T | |
| ENST00000236671.6:c.1010C>T | ENSP00000236671.2:p.Ala337Val | |
| ENST00000427721.2:c.410C>T | ENSP00000415840.2:p.Ala137Val | |
| ENST00000429746.1:c.341C>T | ENSP00000402586.1:p.Ala114Val | |
| ENST00000433655.5:c.*176C>T | ENSP00000404902.1:n.*176C>T | |
| ENST00000497544.1:n.718C>T | ||
| NM_001909.4:c.1010C>T | NP_001900.1:p.Ala337Val | |
| NM_001909.5:c.1010C>T MANE Select | NP_001900.1:p.Ala337Val |