Linked Data
ClinVar Variation Id:
448797
dbSNP Id:
rs374419129
ExAC:
2:179494029 T / G
gnomAD v2:
2-179494029-T-G
gnomAD v3:
2-178629302-T-G
gnomAD v4:
2-178629302-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178629302T>G , CM000664.2:g.178629302T>G | GRCh38 |
| NC_000002.11:g.179494029T>G , CM000664.1:g.179494029T>G | GRCh37 |
| NC_000002.10:g.179202274T>G | NCBI36 |
| NG_011618.3:g.206501A>C , LRG_391:g.206501A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36719A>C | ENSP00000343764.6:p.Lys12240Thr | |
| ENST00000342175.11:c.17804A>C | ENSP00000340554.6:p.Lys5935Thr | |
| ENST00000359218.10:c.17603A>C | ENSP00000352154.5:p.Lys5868Thr | |
| ENST00000342175.10:c.17804A>C | ENSP00000340554.6:p.Lys5935Thr | |
| ENST00000342992.10:c.36719A>C | ENSP00000343764.6:p.Lys12240Thr | |
| ENST00000359218.9:c.17603A>C | ENSP00000352154.5:p.Lys5868Thr | |
| ENST00000460472.6:c.17228A>C | ENSP00000434586.1:p.Lys5743Thr | |
| ENST00000589042.5:c.44423A>C MANE Select | ENSP00000467141.1:p.Lys14808Thr | |
| ENST00000591111.5:c.39500A>C | ENSP00000465570.1:p.Lys13167Thr | |
| ENST00000615779.4:c.39500A>C | ENSP00000483597.1:p.Lys13167Thr | |
| NM_001256850.1:c.39500A>C | NP_001243779.1:p.Lys13167Thr | |
| NM_001267550.2:c.44423A>C MANE Select | NP_001254479.2:p.Lys14808Thr | |
| NM_003319.4:c.17228A>C | NP_003310.4:p.Lys5743Thr | |
| NM_133378.4:c.36719A>C | NP_596869.4:p.Lys12240Thr | |
| NM_133432.3:c.17603A>C | NP_597676.3:p.Lys5868Thr | |
| NM_133437.4:c.17804A>C | NP_597681.4:p.Lys5935Thr | |
| XM_011511729.1:c.43520A>C | XP_011510031.1:p.Lys14507Thr | |
| XM_011511730.1:c.17414A>C | XP_011510032.1:p.Lys5805Thr | |
| XM_011511731.1:c.17273A>C | XP_011510033.1:p.Lys5758Thr | |
| XM_017004819.1:c.43316A>C | XP_016860308.1:p.Lys14439Thr | |
| XM_017004820.1:c.38714A>C | XP_016860309.1:p.Lys12905Thr | |
| XM_017004821.1:c.38711A>C | XP_016860310.1:p.Lys12904Thr | |
| XM_017004822.1:c.35753A>C | XP_016860311.1:p.Lys11918Thr | |
| XM_017004823.1:c.17369A>C | XP_016860312.1:p.Lys5790Thr | |
| XM_024453094.1:c.38864A>C | XP_024308862.1:p.Lys12955Thr | |
| XM_024453095.1:c.38861A>C | XP_024308863.1:p.Lys12954Thr | |
| XM_024453096.1:c.38294A>C | XP_024308864.1:p.Lys12765Thr | |
| XM_024453097.1:c.35636A>C | XP_024308865.1:p.Lys11879Thr | |
| XM_024453098.1:c.35555A>C | XP_024308866.1:p.Lys11852Thr | |
| XM_024453099.1:c.17318A>C | XP_024308867.1:p.Lys5773Thr | |
| XM_024453100.1:c.7172A>C | XP_024308868.1:p.Lys2391Thr |