Linked Data
ClinVar Variation Id:
46848
ClinVar RCV Id:
RCV000040118
RCV000172681
RCV001129207
RCV001079188
RCV001170628
RCV001129206
RCV001129208
RCV001129209
RCV001129210
dbSNP Id:
rs72650019
ExAC:
2:179559353 C / T
gnomAD v2:
2-179559353-C-T
gnomAD v3:
2-178694626-C-T
gnomAD v4:
2-178694626-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178694626C>T , CM000664.2:g.178694626C>T | GRCh38 |
| NC_000002.11:g.179559353C>T , CM000664.1:g.179559353C>T | GRCh37 |
| NC_000002.10:g.179267598C>T | NCBI36 |
| NG_011618.3:g.141177G>A , LRG_391:g.141177G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.27667G>A | ENSP00000343764.6:p.Val9223Ile | |
| ENST00000342175.11:c.13858+43456G>A | ENSP00000340554.6:n.13858+43456G>A | |
| ENST00000359218.10:c.13657+43456G>A | ENSP00000352154.5:n.13657+43456G>A | |
| ENST00000342175.10:c.13858+43456G>A | ENSP00000340554.6:n.13858+43456G>A | |
| ENST00000342992.10:c.27667G>A | ENSP00000343764.6:p.Val9223Ile | |
| ENST00000359218.9:c.13657+43456G>A | ENSP00000352154.5:n.13657+43456G>A | |
| ENST00000414766.5:c.1033G>A | ENSP00000401501.1:p.Val345Ile | |
| ENST00000460472.6:c.13282+43456G>A | ENSP00000434586.1:n.13282+43456G>A | |
| ENST00000589042.5:c.31399G>A MANE Select | ENSP00000467141.1:p.Val10467Ile | |
| ENST00000591111.5:c.30448G>A | ENSP00000465570.1:p.Val10150Ile | |
| ENST00000615779.4:c.30448G>A | ENSP00000483597.1:p.Val10150Ile | |
| NM_001256850.1:c.30448G>A | NP_001243779.1:p.Val10150Ile | |
| NM_001267550.2:c.31399G>A MANE Select | NP_001254479.2:p.Val10467Ile | |
| NM_003319.4:c.13282+43456G>A | NP_003310.4:n.13282+43456G>A | |
| NM_133378.4:c.27667G>A | NP_596869.4:p.Val9223Ile | |
| NM_133432.3:c.13657+43456G>A | NP_597676.3:n.13657+43456G>A | |
| NM_133437.4:c.13858+43456G>A | NP_597681.4:n.13858+43456G>A | |
| XM_011511729.1:c.30496G>A | XP_011510031.1:p.Val10166Ile | |
| XM_011511730.1:c.13468+43456G>A | XP_011510032.1:n.13468+43456G>A | |
| XM_011511731.1:c.13327+43456G>A | XP_011510033.1:n.13327+43456G>A | |
| XM_017004819.1:c.30451G>A | XP_016860308.1:p.Val10151Ile | |
| XM_017004820.1:c.27670G>A | XP_016860309.1:p.Val9224Ile | |
| XM_017004821.1:c.27667G>A | XP_016860310.1:p.Val9223Ile | |
| XM_017004822.1:c.30451G>A | XP_016860311.1:p.Val10151Ile | |
| XM_017004823.1:c.13423+43456G>A | XP_016860312.1:n.13423+43456G>A | |
| XM_024453094.1:c.30451G>A | XP_024308862.1:p.Val10151Ile | |
| XM_024453095.1:c.30451G>A | XP_024308863.1:p.Val10151Ile | |
| XM_024453096.1:c.30451G>A | XP_024308864.1:p.Val10151Ile | |
| XM_024453097.1:c.30451G>A | XP_024308865.1:p.Val10151Ile | |
| XM_024453098.1:c.30451G>A | XP_024308866.1:p.Val10151Ile | |
| XM_024453099.1:c.13423+43456G>A | XP_024308867.1:n.13423+43456G>A |