Linked Data
ClinVar Variation Id:
46914
ClinVar RCV Id:
RCV000040184
RCV000246293
RCV000274824
RCV000329904
RCV000364890
RCV000370805
RCV000389983
RCV000464829
RCV000769035
RCV001293076
RCV001719766
dbSNP Id:
rs189966800
ExAC:
2:179535861 T / G
gnomAD v2:
2-179535861-T-G
gnomAD v3:
2-178671134-T-G
gnomAD v4:
2-178671134-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178671134T>G , CM000664.2:g.178671134T>G | GRCh38 |
| NC_000002.11:g.179535861T>G , CM000664.1:g.179535861T>G | GRCh37 |
| NC_000002.10:g.179244106T>G | NCBI36 |
| NG_011618.3:g.164669A>C , LRG_391:g.164669A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.31361A>C | ENSP00000343764.6:p.Lys10454Thr | |
| ENST00000342175.11:c.13859-28817A>C | ENSP00000340554.6:n.13859-28817A>C | |
| ENST00000359218.10:c.13658-28817A>C | ENSP00000352154.5:n.13658-28817A>C | |
| ENST00000342175.10:c.13859-28817A>C | ENSP00000340554.6:n.13859-28817A>C | |
| ENST00000342992.10:c.31361A>C | ENSP00000343764.6:p.Lys10454Thr | |
| ENST00000359218.9:c.13658-28817A>C | ENSP00000352154.5:n.13658-28817A>C | |
| ENST00000414766.5:c.2440+2499A>C | ENSP00000401501.1:n.2440+2499A>C | |
| ENST00000448510.2:c.346A>C | ||
| ENST00000460472.6:c.13283-28817A>C | ENSP00000434586.1:n.13283-28817A>C | |
| ENST00000589042.5:c.35264A>C MANE Select | ENSP00000467141.1:p.Lys11755Thr | |
| ENST00000591111.5:c.34142A>C | ENSP00000465570.1:p.Lys11381Thr | |
| ENST00000615779.4:c.34142A>C | ENSP00000483597.1:p.Lys11381Thr | |
| NM_001256850.1:c.34142A>C | NP_001243779.1:p.Lys11381Thr | |
| NM_001267550.2:c.35264A>C MANE Select | NP_001254479.2:p.Lys11755Thr | |
| NM_003319.4:c.13283-28817A>C | NP_003310.4:n.13283-28817A>C | |
| NM_133378.4:c.31361A>C | NP_596869.4:p.Lys10454Thr | |
| NM_133432.3:c.13658-28817A>C | NP_597676.3:n.13658-28817A>C | |
| NM_133437.4:c.13859-28817A>C | NP_597681.4:n.13859-28817A>C | |
| XM_011511729.1:c.34361A>C | XP_011510031.1:p.Lys11454Thr | |
| XM_011511730.1:c.13469-28817A>C | XP_011510032.1:n.13469-28817A>C | |
| XM_011511731.1:c.13328-28817A>C | XP_011510033.1:n.13328-28817A>C | |
| XM_017004819.1:c.34316A>C | XP_016860308.1:p.Lys11439Thr | |
| XM_017004820.1:c.31364A>C | XP_016860309.1:p.Lys10455Thr | |
| XM_017004821.1:c.31361A>C | XP_016860310.1:p.Lys10454Thr | |
| XM_017004822.1:c.31858+2499A>C | XP_016860311.1:n.31858+2499A>C | |
| XM_017004823.1:c.13424-28817A>C | XP_016860312.1:n.13424-28817A>C | |
| XM_024453094.1:c.33221-839A>C | XP_024308862.1:n.33221-839A>C | |
| XM_024453095.1:c.33295+2499A>C | XP_024308863.1:n.33295+2499A>C | |
| XM_024453096.1:c.32651-839A>C | XP_024308864.1:n.32651-839A>C | |
| XM_024453097.1:c.31690+2499A>C | XP_024308865.1:n.31690+2499A>C | |
| XM_024453098.1:c.31609+2499A>C | XP_024308866.1:n.31609+2499A>C | |
| XM_024453099.1:c.13424-28817A>C | XP_024308867.1:n.13424-28817A>C |