Linked Data
ClinVar Variation Id:
305955
ClinVar RCV Id:
RCV000292578
dbSNP Id:
rs780088227
ExAC:
11:71146766 G / T
gnomAD v2:
11-71146766-G-T
gnomAD v4:
11-71435720-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435720G>T , CM000673.2:g.71435720G>T | GRCh38 |
| NC_000011.9:g.71146766G>T , CM000673.1:g.71146766G>T | GRCh37 |
| NC_000011.8:g.70824414G>T | NCBI36 |
| NG_012655.2:g.17712C>A , LRG_340:g.17712C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1083C>A | ENSP00000435707.3:p.Phe361Leu | |
| ENST00000526780.6:c.1083C>A | ENSP00000435668.2:p.Phe361Leu | |
| ENST00000527316.6:c.909C>A | ENSP00000435047.2:p.Phe303Leu | |
| ENST00000682708.1:c.1134C>A | ENSP00000506866.1:p.Phe378Leu | |
| ENST00000683287.1:c.1119C>A | ENSP00000507607.1:p.Phe373Leu | |
| ENST00000683714.1:c.1091C>A | ENSP00000508207.1:p.Ser364Tyr | |
| ENST00000684396.1:n.1123C>A | ||
| ENST00000685320.1:c.498C>A | ENSP00000509319.1:p.Phe166Leu | |
| ENST00000690257.1:c.987C>A | ENSP00000510750.1:p.Phe329Leu | |
| ENST00000355527.8:c.1083C>A MANE Select | ENSP00000347717.4:p.Phe361Leu | |
| ENST00000355527.7:c.1083C>A | ENSP00000347717.3:p.Phe361Leu | |
| ENST00000407721.6:c.1083C>A | ENSP00000384739.2:p.Phe361Leu | |
| ENST00000525137.1:c.584C>A | ENSP00000435956.1:p.Ser195Tyr | |
| ENST00000533800.5:c.333C>A | ENSP00000435011.1:p.Phe111Leu | |
| ENST00000534795.5:c.319+2092C>A | ||
| NM_001163817.1:c.1083C>A | NP_001157289.1:p.Phe361Leu | |
| NM_001360.2:c.1083C>A , LRG_340t1:c.1083C>A | NP_001351.2:p.Phe361Leu | |
| XM_011544777.1:c.1217C>A | XP_011543079.1:p.Ser406Tyr | |
| XM_011544777.2:c.1217C>A | XP_011543079.1:p.Ser406Tyr | |
| NM_001163817.2:c.1083C>A | NP_001157289.1:p.Phe361Leu | |
| NM_001360.3:c.1083C>A MANE Select | NP_001351.2:p.Phe361Leu |