Linked Data
ClinVar Variation Id:
46076
ClinVar RCV Id:
RCV000039313
RCV000763669
RCV000766715
RCV001375340
RCV001261015
RCV004528198
RCV003473286
dbSNP Id:
rs111033536
ExAC:
10:73572583 C / T
gnomAD v2:
10-73572583-C-T
gnomAD v3:
10-71812826-C-T
gnomAD v4:
10-71812826-C-T
ERepo:
CA137643/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71812826C>T , CM000672.2:g.71812826C>T | GRCh38 |
| NC_000010.10:g.73572583C>T , CM000672.1:g.73572583C>T | GRCh37 |
| NC_000010.9:g.73242589C>T | NCBI36 |
| NG_008835.1:g.420880C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.9569C>T MANE Select | ENSP00000224721.9:p.Ala3190Val | |
| ENST00000642965.1:c.3502C>T | ENSP00000495222.1:n.3502C>T | |
| ENST00000647092.1:c.3166C>T | ENSP00000495176.1:n.3166C>T | |
| ENST00000224721.10:c.9584C>T | ENSP00000224721.8:p.Ala3195Val | |
| ENST00000398788.4:c.2849C>T | ENSP00000381768.3:p.Ala950Val | |
| ENST00000475158.1:n.3105C>T | ||
| ENST00000619887.4:c.2849C>T | ENSP00000478374.1:p.Ala950Val | |
| ENST00000622827.4:c.9569C>T | ENSP00000483211.1:p.Ala3190Val | |
| NM_001171933.1:c.2849C>T | NP_001165404.1:p.Ala950Val | |
| NM_001171934.1:c.2849C>T | NP_001165405.1:p.Ala950Val | |
| NM_001171935.1:c.260C>T | NP_001165406.1:p.Ala87Val | |
| NM_001171936.1:c.260C>T | NP_001165407.1:p.Ala87Val | |
| NM_022124.5:c.9569C>T | NP_071407.4:p.Ala3190Val | |
| XM_006717940.2:c.9764C>T | XP_006718003.1:p.Ala3255Val | |
| XM_006717942.2:c.9698C>T | XP_006718005.1:p.Ala3233Val | |
| XM_011540039.1:c.9761C>T | XP_011538341.1:p.Ala3254Val | |
| XM_011540040.1:c.9758C>T | XP_011538342.1:p.Ala3253Val | |
| XM_011540041.1:c.9704C>T | XP_011538343.1:p.Ala3235Val | |
| XM_011540042.1:c.9674C>T | XP_011538344.1:p.Ala3225Val | |
| XM_011540043.1:c.9764C>T | XP_011538345.1:p.Ala3255Val | |
| XM_011540044.1:c.9629C>T | XP_011538346.1:p.Ala3210Val | |
| XM_011540045.1:c.9764C>T | XP_011538347.1:p.Ala3255Val | |
| XM_011540046.1:c.9224C>T | XP_011538348.1:p.Ala3075Val | |
| XM_011540047.1:c.8582C>T | XP_011538349.1:p.Ala2861Val | |
| XM_011540052.1:c.6092C>T | XP_011538354.1:p.Ala2031Val | |
| NM_022124.6:c.9569C>T MANE Select | NP_071407.4:p.Ala3190Val |