Linked Data
ClinVar Variation Id:
179055
ClinVar RCV Id:
RCV000155839
RCV000643751
RCV001134861
RCV001134863
RCV001134865
RCV001134862
RCV001134864
RCV004546442
dbSNP Id:
rs371496970
ExAC:
2:179584042 A / C
gnomAD v2:
2-179584042-A-C
gnomAD v3:
2-178719315-A-C
gnomAD v4:
2-178719315-A-C
PubMed:
PMID:23396983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178719315A>C , CM000664.2:g.178719315A>C | GRCh38 |
| NC_000002.11:g.179584042A>C , CM000664.1:g.179584042A>C | GRCh37 |
| NC_000002.10:g.179292287A>C | NCBI36 |
| NG_011618.3:g.116488T>G , LRG_391:g.116488T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.20343T>G | ENSP00000343764.6:p.Ile6781Met | |
| ENST00000342175.11:c.13858+18767T>G | ENSP00000340554.6:n.13858+18767T>G | |
| ENST00000359218.10:c.13657+18767T>G | ENSP00000352154.5:n.13657+18767T>G | |
| ENST00000342175.10:c.13858+18767T>G | ENSP00000340554.6:n.13858+18767T>G | |
| ENST00000342992.10:c.20343T>G | ENSP00000343764.6:p.Ile6781Met | |
| ENST00000359218.9:c.13657+18767T>G | ENSP00000352154.5:n.13657+18767T>G | |
| ENST00000460472.6:c.13282+18767T>G | ENSP00000434586.1:n.13282+18767T>G | |
| ENST00000589042.5:c.24075T>G MANE Select | ENSP00000467141.1:p.Ile8025Met | |
| ENST00000591111.5:c.23124T>G | ENSP00000465570.1:p.Ile7708Met | |
| ENST00000615779.4:c.23124T>G | ENSP00000483597.1:p.Ile7708Met | |
| NM_001256850.1:c.23124T>G | NP_001243779.1:p.Ile7708Met | |
| NM_001267550.2:c.24075T>G MANE Select | NP_001254479.2:p.Ile8025Met | |
| NM_003319.4:c.13282+18767T>G | NP_003310.4:n.13282+18767T>G | |
| NM_133378.4:c.20343T>G | NP_596869.4:p.Ile6781Met | |
| NM_133432.3:c.13657+18767T>G | NP_597676.3:n.13657+18767T>G | |
| NM_133437.4:c.13858+18767T>G | NP_597681.4:n.13858+18767T>G | |
| XM_011511729.1:c.23172T>G | XP_011510031.1:p.Ile7724Met | |
| XM_011511730.1:c.13468+18767T>G | XP_011510032.1:n.13468+18767T>G | |
| XM_011511731.1:c.13327+18767T>G | XP_011510033.1:n.13327+18767T>G | |
| XM_017004819.1:c.23127T>G | XP_016860308.1:p.Ile7709Met | |
| XM_017004820.1:c.20346T>G | XP_016860309.1:p.Ile6782Met | |
| XM_017004821.1:c.20343T>G | XP_016860310.1:p.Ile6781Met | |
| XM_017004822.1:c.23127T>G | XP_016860311.1:p.Ile7709Met | |
| XM_017004823.1:c.13423+18767T>G | XP_016860312.1:n.13423+18767T>G | |
| XM_024453094.1:c.23127T>G | XP_024308862.1:p.Ile7709Met | |
| XM_024453095.1:c.23127T>G | XP_024308863.1:p.Ile7709Met | |
| XM_024453096.1:c.23127T>G | XP_024308864.1:p.Ile7709Met | |
| XM_024453097.1:c.23127T>G | XP_024308865.1:p.Ile7709Met | |
| XM_024453098.1:c.23127T>G | XP_024308866.1:p.Ile7709Met | |
| XM_024453099.1:c.13423+18767T>G | XP_024308867.1:n.13423+18767T>G |