Linked Data
dbSNP Id:
rs396991
ExAC:
1:161514542 A / G
gnomAD v2:
1-161514542-A-G
gnomAD v4:
1-161544752-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161544752A>G , CM000663.2:g.161544752A>G | GRCh38 |
| NC_000001.10:g.161514542A>G , CM000663.1:g.161514542A>G | GRCh37 |
| NC_000001.9:g.159781166A>G | NCBI36 |
| NG_009066.1:g.10872T>C , LRG_60:g.10872T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367967.8:c.526T>C | ENSP00000356944.3:p.Phe176Leu | |
| ENST00000426740.8:c.523T>C | ENSP00000410180.3:p.Phe175Leu | |
| ENST00000436743.7:c.526T>C | ENSP00000416607.1:p.Phe176Leu | |
| ENST00000699395.1:c.526T>C | ENSP00000514356.1:p.Phe176Leu | |
| ENST00000699396.1:c.526T>C | ENSP00000514357.1:p.Phe176Leu | |
| ENST00000699397.1:c.526T>C | ENSP00000514358.1:p.Phe176Leu | |
| ENST00000699398.1:c.526T>C | ENSP00000514359.1:p.Phe176Leu | |
| ENST00000699399.1:c.475T>C | ENSP00000514360.1:p.Phe159Leu | |
| ENST00000699400.1:c.523T>C | ENSP00000514361.1:p.Phe175Leu | |
| ENST00000699401.1:c.526T>C | ENSP00000514362.1:p.Phe176Leu | |
| ENST00000426740.7:c.523T>C | ENSP00000410180.3:p.Phe175Leu | |
| ENST00000436743.6:c.526T>C | ENSP00000416607.1:p.Phe176Leu | |
| ENST00000443193.6:c.526T>C MANE Select | ENSP00000392047.2:p.Phe176Leu | |
| ENST00000367967.7:c.526T>C | ENSP00000356944.3:p.Phe176Leu | |
| ENST00000367969.7:c.634T>C | ENSP00000356946.3:p.Phe212Leu | |
| ENST00000426740.5:c.576T>C | ||
| ENST00000436743.5:c.526T>C | ENSP00000416607.1:p.Phe176Leu | |
| ENST00000443193.5:c.526T>C | ENSP00000392047.2:p.Phe176Leu | |
| NM_000569.6:c.634T>C | NP_000560.5:p.Phe212Leu | |
| NM_001127592.1:c.631T>C | NP_001121064.1:p.Phe211Leu | |
| NM_001127593.1:c.526T>C , LRG_60t1:c.526T>C | NP_001121065.1:p.Phe176Leu | |
| NM_001127595.1:c.526T>C | NP_001121067.1:p.Phe176Leu | |
| NM_001127596.1:c.523T>C | NP_001121068.1:p.Phe175Leu | |
| XM_011509293.1:c.428-1553T>C | XP_011507595.1:n.428-1553T>C | |
| NM_000569.7:c.841T>C | NP_000560.6:p.Phe281Leu | |
| NM_001127592.2:c.838T>C | NP_001121064.2:p.Phe280Leu | |
| NM_001329120.1:c.526T>C | NP_001316049.1:p.Phe176Leu | |
| NM_001329122.1:c.635-1553T>C | NP_001316051.1:n.635-1553T>C | |
| XM_024454064.1:c.523T>C | XP_024309832.1:p.Phe175Leu | |
| NM_001127595.2:c.526T>C | NP_001121067.1:p.Phe176Leu | |
| NM_001127596.2:c.523T>C | NP_001121068.1:p.Phe175Leu | |
| NM_000569.8:c.526T>C MANE Select | NP_000560.7:p.Phe176Leu | |
| NM_001329120.2:c.526T>C | NP_001316049.1:p.Phe176Leu | |
| NM_001386450.1:c.523T>C | NP_001373379.1:p.Phe175Leu |