Linked Data
ClinVar Variation Id:
467137
dbSNP Id:
rs371426048
ExAC:
2:179500307 G / A
gnomAD v2:
2-179500307-G-A
gnomAD v3:
2-178635580-G-A
gnomAD v4:
2-178635580-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178635580G>A , CM000664.2:g.178635580G>A | GRCh38 |
| NC_000002.11:g.179500307G>A , CM000664.1:g.179500307G>A | GRCh37 |
| NC_000002.10:g.179208552G>A | NCBI36 |
| NG_011618.3:g.200223C>T , LRG_391:g.200223C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34040C>T | ENSP00000343764.6:p.Ala11347Val | |
| ENST00000342175.11:c.15125C>T | ENSP00000340554.6:p.Ala5042Val | |
| ENST00000359218.10:c.14924C>T | ENSP00000352154.5:p.Ala4975Val | |
| ENST00000342175.10:c.15125C>T | ENSP00000340554.6:p.Ala5042Val | |
| ENST00000342992.10:c.34040C>T | ENSP00000343764.6:p.Ala11347Val | |
| ENST00000359218.9:c.14924C>T | ENSP00000352154.5:p.Ala4975Val | |
| ENST00000460472.6:c.14549C>T | ENSP00000434586.1:p.Ala4850Val | |
| ENST00000589042.5:c.41744C>T MANE Select | ENSP00000467141.1:p.Ala13915Val | |
| ENST00000591111.5:c.36821C>T | ENSP00000465570.1:p.Ala12274Val | |
| ENST00000615779.4:c.36821C>T | ENSP00000483597.1:p.Ala12274Val | |
| NM_001256850.1:c.36821C>T | NP_001243779.1:p.Ala12274Val | |
| NM_001267550.2:c.41744C>T MANE Select | NP_001254479.2:p.Ala13915Val | |
| NM_003319.4:c.14549C>T | NP_003310.4:p.Ala4850Val | |
| NM_133378.4:c.34040C>T | NP_596869.4:p.Ala11347Val | |
| NM_133432.3:c.14924C>T | NP_597676.3:p.Ala4975Val | |
| NM_133437.4:c.15125C>T | NP_597681.4:p.Ala5042Val | |
| XM_011511729.1:c.40841C>T | XP_011510031.1:p.Ala13614Val | |
| XM_011511730.1:c.14735C>T | XP_011510032.1:p.Ala4912Val | |
| XM_011511731.1:c.14594C>T | XP_011510033.1:p.Ala4865Val | |
| XM_017004819.1:c.40637C>T | XP_016860308.1:p.Ala13546Val | |
| XM_017004820.1:c.36035C>T | XP_016860309.1:p.Ala12012Val | |
| XM_017004821.1:c.36032C>T | XP_016860310.1:p.Ala12011Val | |
| XM_017004822.1:c.33074C>T | XP_016860311.1:p.Ala11025Val | |
| XM_017004823.1:c.14690C>T | XP_016860312.1:p.Ala4897Val | |
| XM_024453094.1:c.36185C>T | XP_024308862.1:p.Ala12062Val | |
| XM_024453095.1:c.36182C>T | XP_024308863.1:p.Ala12061Val | |
| XM_024453096.1:c.35615C>T | XP_024308864.1:p.Ala11872Val | |
| XM_024453097.1:c.32957C>T | XP_024308865.1:p.Ala10986Val | |
| XM_024453098.1:c.32876C>T | XP_024308866.1:p.Ala10959Val | |
| XM_024453099.1:c.14639C>T | XP_024308867.1:p.Ala4880Val | |
| XM_024453100.1:c.4493C>T | XP_024308868.1:p.Ala1498Val |