Linked Data
ClinVar Variation Id:
177972
ClinVar RCV Id:
RCV000154645
RCV000172380
RCV001131545
RCV001170862
RCV001131544
RCV001131546
RCV001083732
RCV001131542
RCV001131543
RCV004534959
dbSNP Id:
rs72648989
ExAC:
2:179578891 T / C
gnomAD v2:
2-179578891-T-C
gnomAD v3:
2-178714164-T-C
gnomAD v4:
2-178714164-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178714164T>C , CM000664.2:g.178714164T>C | GRCh38 |
| NC_000002.11:g.179578891T>C , CM000664.1:g.179578891T>C | GRCh37 |
| NC_000002.10:g.179287136T>C | NCBI36 |
| NG_011618.3:g.121639A>G , LRG_391:g.121639A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.22762A>G | ENSP00000343764.6:p.Ile7588Val | |
| ENST00000342175.11:c.13858+23918A>G | ENSP00000340554.6:n.13858+23918A>G | |
| ENST00000359218.10:c.13657+23918A>G | ENSP00000352154.5:n.13657+23918A>G | |
| ENST00000342175.10:c.13858+23918A>G | ENSP00000340554.6:n.13858+23918A>G | |
| ENST00000342992.10:c.22762A>G | ENSP00000343764.6:p.Ile7588Val | |
| ENST00000359218.9:c.13657+23918A>G | ENSP00000352154.5:n.13657+23918A>G | |
| ENST00000460472.6:c.13282+23918A>G | ENSP00000434586.1:n.13282+23918A>G | |
| ENST00000589042.5:c.26494A>G MANE Select | ENSP00000467141.1:p.Ile8832Val | |
| ENST00000591111.5:c.25543A>G | ENSP00000465570.1:p.Ile8515Val | |
| ENST00000615779.4:c.25543A>G | ENSP00000483597.1:p.Ile8515Val | |
| NM_001256850.1:c.25543A>G | NP_001243779.1:p.Ile8515Val | |
| NM_001267550.2:c.26494A>G MANE Select | NP_001254479.2:p.Ile8832Val | |
| NM_003319.4:c.13282+23918A>G | NP_003310.4:n.13282+23918A>G | |
| NM_133378.4:c.22762A>G | NP_596869.4:p.Ile7588Val | |
| NM_133432.3:c.13657+23918A>G | NP_597676.3:n.13657+23918A>G | |
| NM_133437.4:c.13858+23918A>G | NP_597681.4:n.13858+23918A>G | |
| XM_011511729.1:c.25591A>G | XP_011510031.1:p.Ile8531Val | |
| XM_011511730.1:c.13468+23918A>G | XP_011510032.1:n.13468+23918A>G | |
| XM_011511731.1:c.13327+23918A>G | XP_011510033.1:n.13327+23918A>G | |
| XM_017004819.1:c.25546A>G | XP_016860308.1:p.Ile8516Val | |
| XM_017004820.1:c.22765A>G | XP_016860309.1:p.Ile7589Val | |
| XM_017004821.1:c.22762A>G | XP_016860310.1:p.Ile7588Val | |
| XM_017004822.1:c.25546A>G | XP_016860311.1:p.Ile8516Val | |
| XM_017004823.1:c.13423+23918A>G | XP_016860312.1:n.13423+23918A>G | |
| XM_024453094.1:c.25546A>G | XP_024308862.1:p.Ile8516Val | |
| XM_024453095.1:c.25546A>G | XP_024308863.1:p.Ile8516Val | |
| XM_024453096.1:c.25546A>G | XP_024308864.1:p.Ile8516Val | |
| XM_024453097.1:c.25546A>G | XP_024308865.1:p.Ile8516Val | |
| XM_024453098.1:c.25546A>G | XP_024308866.1:p.Ile8516Val | |
| XM_024453099.1:c.13423+23918A>G | XP_024308867.1:n.13423+23918A>G |