Linked Data
ClinVar Variation Id:
128873
dbSNP Id:
rs17571
ExAC:
11:1782594 G / A
gnomAD v2:
11-1782594-G-A
gnomAD v3:
11-1761364-G-A
gnomAD v4:
11-1761364-G-A
PubMed:
PMID:10218883
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1761364G>A , CM000673.2:g.1761364G>A | GRCh38 |
| NC_000011.9:g.1782594G>A , CM000673.1:g.1782594G>A | GRCh37 |
| NC_000011.8:g.1739170G>A | NCBI36 |
| NG_008655.1:g.7629C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236671.7:c.173C>T MANE Select | ENSP00000236671.2:p.Ala58Val | |
| ENST00000367196.4:c.68C>T | ENSP00000356164.4:p.Ala23Val | |
| ENST00000429746.2:c.68C>T | ENSP00000402586.2:p.Ala23Val | |
| ENST00000433655.6:c.173C>T | ENSP00000404902.1:p.Ala58Val | |
| ENST00000438213.6:c.173C>T | ENSP00000415036.2:p.Ala58Val | |
| ENST00000636397.1:c.173C>T | ENSP00000489910.1:p.Ala58Val | |
| ENST00000636571.1:c.173C>T | ENSP00000490770.1:p.Ala58Val | |
| ENST00000636615.1:c.173C>T | ENSP00000490014.1:p.Ala58Val | |
| ENST00000636843.1:c.173C>T | ENSP00000490897.1:p.Ala58Val | |
| ENST00000637381.2:n.2601C>T | ||
| ENST00000637387.1:c.173C>T | ENSP00000490598.1:p.Ala58Val | |
| ENST00000637815.2:c.173C>T | ENSP00000490344.1:p.Ala58Val | |
| ENST00000637915.1:c.173C>T | ENSP00000490471.1:p.Ala58Val | |
| ENST00000678991.1:c.*34C>T | ENSP00000503019.1:n.*34C>T | |
| ENST00000236671.6:c.173C>T | ENSP00000236671.2:p.Ala58Val | |
| ENST00000367196.3:c.68C>T | ENSP00000356164.3:p.Ala23Val | |
| ENST00000433655.5:c.173C>T | ENSP00000404902.1:p.Ala58Val | |
| ENST00000438213.5:c.128C>T | ENSP00000415036.1:p.Ala43Val | |
| NM_001909.4:c.173C>T | NP_001900.1:p.Ala58Val | |
| NM_001909.5:c.173C>T MANE Select | NP_001900.1:p.Ala58Val |