Linked Data
ClinVar Variation Id:
404876
dbSNP Id:
rs780790022
ExAC:
2:179500306 C / T
gnomAD v2:
2-179500306-C-T
gnomAD v3:
2-178635579-C-T
gnomAD v4:
2-178635579-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178635579C>T , CM000664.2:g.178635579C>T | GRCh38 |
| NC_000002.11:g.179500306C>T , CM000664.1:g.179500306C>T | GRCh37 |
| NC_000002.10:g.179208551C>T | NCBI36 |
| NG_011618.3:g.200224G>A , LRG_391:g.200224G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34041G>A | ENSP00000343764.6:p.Ala11347= | |
| ENST00000342175.11:c.15126G>A | ENSP00000340554.6:p.Ala5042= | |
| ENST00000359218.10:c.14925G>A | ENSP00000352154.5:p.Ala4975= | |
| ENST00000342175.10:c.15126G>A | ENSP00000340554.6:p.Ala5042= | |
| ENST00000342992.10:c.34041G>A | ENSP00000343764.6:p.Ala11347= | |
| ENST00000359218.9:c.14925G>A | ENSP00000352154.5:p.Ala4975= | |
| ENST00000460472.6:c.14550G>A | ENSP00000434586.1:p.Ala4850= | |
| ENST00000589042.5:c.41745G>A MANE Select | ENSP00000467141.1:p.Ala13915= | |
| ENST00000591111.5:c.36822G>A | ENSP00000465570.1:p.Ala12274= | |
| ENST00000615779.4:c.36822G>A | ENSP00000483597.1:p.Ala12274= | |
| NM_001256850.1:c.36822G>A | NP_001243779.1:p.Ala12274= | |
| NM_001267550.2:c.41745G>A MANE Select | NP_001254479.2:p.Ala13915= | |
| NM_003319.4:c.14550G>A | NP_003310.4:p.Ala4850= | |
| NM_133378.4:c.34041G>A | NP_596869.4:p.Ala11347= | |
| NM_133432.3:c.14925G>A | NP_597676.3:p.Ala4975= | |
| NM_133437.4:c.15126G>A | NP_597681.4:p.Ala5042= | |
| XM_011511729.1:c.40842G>A | XP_011510031.1:p.Ala13614= | |
| XM_011511730.1:c.14736G>A | XP_011510032.1:p.Ala4912= | |
| XM_011511731.1:c.14595G>A | XP_011510033.1:p.Ala4865= | |
| XM_017004819.1:c.40638G>A | XP_016860308.1:p.Ala13546= | |
| XM_017004820.1:c.36036G>A | XP_016860309.1:p.Ala12012= | |
| XM_017004821.1:c.36033G>A | XP_016860310.1:p.Ala12011= | |
| XM_017004822.1:c.33075G>A | XP_016860311.1:p.Ala11025= | |
| XM_017004823.1:c.14691G>A | XP_016860312.1:p.Ala4897= | |
| XM_024453094.1:c.36186G>A | XP_024308862.1:p.Ala12062= | |
| XM_024453095.1:c.36183G>A | XP_024308863.1:p.Ala12061= | |
| XM_024453096.1:c.35616G>A | XP_024308864.1:p.Ala11872= | |
| XM_024453097.1:c.32958G>A | XP_024308865.1:p.Ala10986= | |
| XM_024453098.1:c.32877G>A | XP_024308866.1:p.Ala10959= | |
| XM_024453099.1:c.14640G>A | XP_024308867.1:p.Ala4880= | |
| XM_024453100.1:c.4494G>A | XP_024308868.1:p.Ala1498= |