Linked Data
ClinVar Variation Id:
594208
dbSNP Id:
rs542384685
ExAC:
2:227872164 G / C
gnomAD v2:
2-227872164-G-C
gnomAD v3:
2-227007448-G-C
gnomAD v4:
2-227007448-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227007448G>C , CM000664.2:g.227007448G>C | GRCh38 |
| NC_000002.11:g.227872164G>C , CM000664.1:g.227872164G>C | GRCh37 |
| NC_000002.10:g.227580408G>C | NCBI36 |
| NG_011592.1:g.162112C>G , LRG_231:g.162112C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682098.1:c.552C>G | ENSP00000508331.1:p.Phe184Leu | |
| ENST00000396625.5:c.4950C>G MANE Select | ENSP00000379866.3:p.Phe1650Leu | |
| ENST00000396625.3:c.4950C>G | ENSP00000379866.3:p.Phe1650Leu | |
| NM_000092.4:c.4950C>G , LRG_231t1:c.4950C>G | NP_000083.3:p.Phe1650Leu | |
| XM_005246281.2:c.4950C>G | XP_005246338.1:p.Phe1650Leu | |
| XM_005246282.2:c.4395C>G | XP_005246339.1:p.Phe1465Leu | |
| XM_006712246.2:c.4761C>G | XP_006712309.1:p.Phe1587Leu | |
| XM_006712249.2:c.4809+570C>G | XP_006712312.1:n.4809+570C>G | |
| XM_006712252.2:c.4216+14600C>G | XP_006712315.1:n.4216+14600C>G | |
| XM_011510557.1:c.4869C>G | XP_011508859.1:p.Phe1623Leu | |
| XM_011510558.1:c.4842C>G | XP_011508860.1:p.Phe1614Leu | |
| XM_011510559.1:c.4809+570C>G | XP_011508861.1:n.4809+570C>G | |
| XM_011510560.1:c.4809+570C>G | XP_011508862.1:n.4809+570C>G | |
| XM_011510561.1:c.4809+570C>G | XP_011508863.1:n.4809+570C>G | |
| XM_011510562.1:c.4809+570C>G | XP_011508864.1:n.4809+570C>G | |
| XM_011510565.1:c.4216+14600C>G | XP_011508867.1:n.4216+14600C>G | |
| XM_011510566.1:c.4216+14600C>G | XP_011508868.1:n.4216+14600C>G | |
| XM_011510567.1:c.4216+14600C>G | XP_011508869.1:n.4216+14600C>G | |
| XM_011510569.1:c.4216+14600C>G | XP_011508871.1:n.4216+14600C>G | |
| XM_011510570.1:c.4216+14600C>G | XP_011508872.1:n.4216+14600C>G | |
| XM_011510571.1:c.4216+14600C>G | XP_011508873.1:n.4216+14600C>G | |
| XM_011510572.1:c.3276C>G | XP_011508874.1:p.Phe1092Leu | |
| XR_922837.1:n.5119+570C>G | ||
| XR_922838.1:n.5119+570C>G | ||
| XR_922839.1:n.4526+14600C>G | ||
| XR_922840.1:n.4526+14600C>G | ||
| XM_005246281.3:c.4950C>G | XP_005246338.1:p.Phe1650Leu | |
| XM_005246282.3:c.4395C>G | XP_005246339.1:p.Phe1465Leu | |
| XM_006712246.3:c.4761C>G | XP_006712309.1:p.Phe1587Leu | |
| XM_011510557.2:c.4869C>G | XP_011508859.1:p.Phe1623Leu | |
| XM_011510558.2:c.4842C>G | XP_011508860.1:p.Phe1614Leu | |
| XM_011510559.2:c.4809+570C>G | XP_011508861.1:n.4809+570C>G | |
| XM_011510560.2:c.4809+570C>G | XP_011508862.1:n.4809+570C>G | |
| XM_011510561.2:c.4809+570C>G | XP_011508863.1:n.4809+570C>G | |
| XM_011510562.2:c.4809+570C>G | XP_011508864.1:n.4809+570C>G | |
| XM_011510565.2:c.4216+14600C>G | XP_011508867.1:n.4216+14600C>G | |
| XM_011510566.2:c.4216+14600C>G | XP_011508868.1:n.4216+14600C>G | |
| XM_011510567.2:c.4216+14600C>G | XP_011508869.1:n.4216+14600C>G | |
| XM_011510569.2:c.4216+14600C>G | XP_011508871.1:n.4216+14600C>G | |
| XM_011510570.2:c.4216+14600C>G | XP_011508872.1:n.4216+14600C>G | |
| XM_011510572.3:c.3276C>G | XP_011508874.1:p.Phe1092Leu | |
| XM_017003297.1:c.4833C>G | XP_016858786.1:p.Phe1611Leu | |
| XM_017003298.1:c.4809+570C>G | XP_016858787.1:n.4809+570C>G | |
| XM_017003300.1:c.4216+14600C>G | XP_016858789.1:n.4216+14600C>G | |
| XR_001738602.1:n.5135+570C>G | ||
| XR_001738603.1:n.5135+570C>G | ||
| XR_001738604.1:n.5022C>G | ||
| XR_001738606.1:n.4542+14600C>G | ||
| XR_001738607.1:n.4542+14600C>G | ||
| XR_922837.2:n.5135+570C>G | ||
| NM_000092.5:c.4950C>G MANE Select | NP_000083.3:p.Phe1650Leu |