Linked Data
ClinVar Variation Id:
166151
ClinVar RCV Id:
RCV000152396
RCV000172688
RCV000246789
RCV001079307
RCV001132154
RCV001133076
RCV001132152
RCV001132153
RCV001133075
RCV002225086
RCV003486682
dbSNP Id:
rs201571580
ExAC:
2:179582769 C / A
gnomAD v2:
2-179582769-C-A
gnomAD v3:
2-178718042-C-A
gnomAD v4:
2-178718042-C-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178718042C>A , CM000664.2:g.178718042C>A | GRCh38 |
| NC_000002.11:g.179582769C>A , CM000664.1:g.179582769C>A | GRCh37 |
| NC_000002.10:g.179291014C>A | NCBI36 |
| NG_011618.3:g.117761G>T , LRG_391:g.117761G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.21232G>T | ENSP00000343764.6:p.Val7078Leu | |
| ENST00000342175.11:c.13858+20040G>T | ENSP00000340554.6:n.13858+20040G>T | |
| ENST00000359218.10:c.13657+20040G>T | ENSP00000352154.5:n.13657+20040G>T | |
| ENST00000342175.10:c.13858+20040G>T | ENSP00000340554.6:n.13858+20040G>T | |
| ENST00000342992.10:c.21232G>T | ENSP00000343764.6:p.Val7078Leu | |
| ENST00000359218.9:c.13657+20040G>T | ENSP00000352154.5:n.13657+20040G>T | |
| ENST00000460472.6:c.13282+20040G>T | ENSP00000434586.1:n.13282+20040G>T | |
| ENST00000589042.5:c.24964G>T MANE Select | ENSP00000467141.1:p.Val8322Leu | |
| ENST00000591111.5:c.24013G>T | ENSP00000465570.1:p.Val8005Leu | |
| ENST00000615779.4:c.24013G>T | ENSP00000483597.1:p.Val8005Leu | |
| NM_001256850.1:c.24013G>T | NP_001243779.1:p.Val8005Leu | |
| NM_001267550.2:c.24964G>T MANE Select | NP_001254479.2:p.Val8322Leu | |
| NM_003319.4:c.13282+20040G>T | NP_003310.4:n.13282+20040G>T | |
| NM_133378.4:c.21232G>T | NP_596869.4:p.Val7078Leu | |
| NM_133432.3:c.13657+20040G>T | NP_597676.3:n.13657+20040G>T | |
| NM_133437.4:c.13858+20040G>T | NP_597681.4:n.13858+20040G>T | |
| XM_011511729.1:c.24061G>T | XP_011510031.1:p.Val8021Leu | |
| XM_011511730.1:c.13468+20040G>T | XP_011510032.1:n.13468+20040G>T | |
| XM_011511731.1:c.13327+20040G>T | XP_011510033.1:n.13327+20040G>T | |
| XM_017004819.1:c.24016G>T | XP_016860308.1:p.Val8006Leu | |
| XM_017004820.1:c.21235G>T | XP_016860309.1:p.Val7079Leu | |
| XM_017004821.1:c.21232G>T | XP_016860310.1:p.Val7078Leu | |
| XM_017004822.1:c.24016G>T | XP_016860311.1:p.Val8006Leu | |
| XM_017004823.1:c.13423+20040G>T | XP_016860312.1:n.13423+20040G>T | |
| XM_024453094.1:c.24016G>T | XP_024308862.1:p.Val8006Leu | |
| XM_024453095.1:c.24016G>T | XP_024308863.1:p.Val8006Leu | |
| XM_024453096.1:c.24016G>T | XP_024308864.1:p.Val8006Leu | |
| XM_024453097.1:c.24016G>T | XP_024308865.1:p.Val8006Leu | |
| XM_024453098.1:c.24016G>T | XP_024308866.1:p.Val8006Leu | |
| XM_024453099.1:c.13423+20040G>T | XP_024308867.1:n.13423+20040G>T |