Linked Data
ClinVar Variation Id:
178276
ClinVar RCV Id:
RCV000155017
RCV000232642
RCV000619102
RCV000724953
RCV001131195
RCV001131196
RCV001131197
RCV001131198
RCV001131199
dbSNP Id:
rs142414432
ExAC:
2:179659191 C / T
gnomAD v2:
2-179659191-C-T
gnomAD v3:
2-178794464-C-T
gnomAD v4:
2-178794464-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178794464C>T , CM000664.2:g.178794464C>T | GRCh38 |
| NC_000002.11:g.179659191C>T , CM000664.1:g.179659191C>T | GRCh37 |
| NC_000002.10:g.179367436C>T | NCBI36 |
| NG_011618.3:g.41339G>A , LRG_391:g.41339G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.1333G>A | ENSP00000343764.6:p.Ala445Thr | |
| ENST00000342175.11:c.1333G>A | ENSP00000340554.6:p.Ala445Thr | |
| ENST00000359218.10:c.1333G>A | ENSP00000352154.5:p.Ala445Thr | |
| ENST00000360870.10:c.1333G>A MANE Plus Clinical | ENSP00000354117.4:p.Ala445Thr | |
| ENST00000342175.10:c.1333G>A | ENSP00000340554.6:p.Ala445Thr | |
| ENST00000342992.10:c.1333G>A | ENSP00000343764.6:p.Ala445Thr | |
| ENST00000359218.9:c.1333G>A | ENSP00000352154.5:p.Ala445Thr | |
| ENST00000360870.9:c.1333G>A | ENSP00000354117.4:p.Ala445Thr | |
| ENST00000436599.1:c.121G>A | ENSP00000405517.1:p.Ala41Thr | |
| ENST00000460472.6:c.1333G>A | ENSP00000434586.1:p.Ala445Thr | |
| ENST00000589042.5:c.1333G>A MANE Select | ENSP00000467141.1:p.Ala445Thr | |
| ENST00000591111.5:c.1333G>A | ENSP00000465570.1:p.Ala445Thr | |
| ENST00000615779.4:c.1333G>A | ENSP00000483597.1:p.Ala445Thr | |
| NM_001256850.1:c.1333G>A | NP_001243779.1:p.Ala445Thr | |
| NM_001267550.2:c.1333G>A MANE Select | NP_001254479.2:p.Ala445Thr | |
| NM_003319.4:c.1333G>A | NP_003310.4:p.Ala445Thr | |
| NM_133378.4:c.1333G>A | NP_596869.4:p.Ala445Thr | |
| NM_133379.4:c.1333G>A , LRG_391t2:c.1333G>A | NP_596870.2:p.Ala445Thr | |
| NM_133432.3:c.1333G>A | NP_597676.3:p.Ala445Thr | |
| NM_133437.4:c.1333G>A | NP_597681.4:p.Ala445Thr | |
| XM_011511729.1:c.1378G>A | XP_011510031.1:p.Ala460Thr | |
| XM_011511730.1:c.1378G>A | XP_011510032.1:p.Ala460Thr | |
| XM_011511731.1:c.1378G>A | XP_011510033.1:p.Ala460Thr | |
| XM_011511732.1:c.1378G>A | XP_011510034.1:p.Ala460Thr | |
| XM_017004819.1:c.1333G>A | XP_016860308.1:p.Ala445Thr | |
| XM_017004820.1:c.1333G>A | XP_016860309.1:p.Ala445Thr | |
| XM_017004821.1:c.1333G>A | XP_016860310.1:p.Ala445Thr | |
| XM_017004822.1:c.1333G>A | XP_016860311.1:p.Ala445Thr | |
| XM_017004823.1:c.1333G>A | XP_016860312.1:p.Ala445Thr | |
| XM_024453094.1:c.1333G>A | XP_024308862.1:p.Ala445Thr | |
| XM_024453095.1:c.1333G>A | XP_024308863.1:p.Ala445Thr | |
| XM_024453096.1:c.1333G>A | XP_024308864.1:p.Ala445Thr | |
| XM_024453097.1:c.1333G>A | XP_024308865.1:p.Ala445Thr | |
| XM_024453098.1:c.1333G>A | XP_024308866.1:p.Ala445Thr | |
| XM_024453099.1:c.1333G>A | XP_024308867.1:p.Ala445Thr | |
| NM_133379.5:c.1333G>A MANE Plus Clinical | NP_596870.2:p.Ala445Thr |