Linked Data
ClinVar Variation Id:
12655
dbSNP Id:
rs267607157
gnomAD v2:
2-179650717-G-A
gnomAD v3:
2-178785990-G-A
gnomAD v4:
2-178785990-G-A
PubMed:
PMID:11846417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178785990G>A , CM000664.2:g.178785990G>A | GRCh38 |
| NC_000002.11:g.179650717G>A , CM000664.1:g.179650717G>A | GRCh37 |
| NC_000002.10:g.179358962G>A | NCBI36 |
| NG_011618.3:g.49813C>T , LRG_391:g.49813C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.2228C>T | ENSP00000343764.6:p.Ala743Val | |
| ENST00000342175.11:c.2090C>T | ENSP00000340554.6:p.Ala697Val | |
| ENST00000359218.10:c.2090C>T | ENSP00000352154.5:p.Ala697Val | |
| ENST00000360870.10:c.2228C>T MANE Plus Clinical | ENSP00000354117.4:p.Ala743Val | |
| ENST00000342175.10:c.2090C>T | ENSP00000340554.6:p.Ala697Val | |
| ENST00000342992.10:c.2228C>T | ENSP00000343764.6:p.Ala743Val | |
| ENST00000359218.9:c.2090C>T | ENSP00000352154.5:p.Ala697Val | |
| ENST00000360870.9:c.2228C>T | ENSP00000354117.4:p.Ala743Val | |
| ENST00000460472.6:c.2090C>T | ENSP00000434586.1:p.Ala697Val | |
| ENST00000589042.5:c.2228C>T MANE Select | ENSP00000467141.1:p.Ala743Val | |
| ENST00000591111.5:c.2228C>T | ENSP00000465570.1:p.Ala743Val | |
| ENST00000615779.4:c.2228C>T | ENSP00000483597.1:p.Ala743Val | |
| NM_001256850.1:c.2228C>T | NP_001243779.1:p.Ala743Val | |
| NM_001267550.2:c.2228C>T MANE Select | NP_001254479.2:p.Ala743Val | |
| NM_003319.4:c.2090C>T | NP_003310.4:p.Ala697Val | |
| NM_133378.4:c.2228C>T | NP_596869.4:p.Ala743Val | |
| NM_133379.4:c.2228C>T , LRG_391t2:c.2228C>T | NP_596870.2:p.Ala743Val | |
| NM_133432.3:c.2090C>T | NP_597676.3:p.Ala697Val | |
| NM_133437.4:c.2090C>T | NP_597681.4:p.Ala697Val | |
| XM_011511729.1:c.2276C>T | XP_011510031.1:p.Ala759Val | |
| XM_011511730.1:c.2276C>T | XP_011510032.1:p.Ala759Val | |
| XM_011511731.1:c.2135C>T | XP_011510033.1:p.Ala712Val | |
| XM_011511732.1:c.2273C>T | XP_011510034.1:p.Ala758Val | |
| XM_017004819.1:c.2231C>T | XP_016860308.1:p.Ala744Val | |
| XM_017004820.1:c.2231C>T | XP_016860309.1:p.Ala744Val | |
| XM_017004821.1:c.2228C>T | XP_016860310.1:p.Ala743Val | |
| XM_017004822.1:c.2231C>T | XP_016860311.1:p.Ala744Val | |
| XM_017004823.1:c.2231C>T | XP_016860312.1:p.Ala744Val | |
| XM_024453094.1:c.2231C>T | XP_024308862.1:p.Ala744Val | |
| XM_024453095.1:c.2231C>T | XP_024308863.1:p.Ala744Val | |
| XM_024453096.1:c.2231C>T | XP_024308864.1:p.Ala744Val | |
| XM_024453097.1:c.2231C>T | XP_024308865.1:p.Ala744Val | |
| XM_024453098.1:c.2231C>T | XP_024308866.1:p.Ala744Val | |
| XM_024453099.1:c.2231C>T | XP_024308867.1:p.Ala744Val | |
| NM_133379.5:c.2228C>T MANE Plus Clinical | NP_596870.2:p.Ala743Val |