Linked Data
ClinVar Variation Id:
225994
ClinVar RCV Id:
RCV000455498
dbSNP Id:
rs396991
ExAC:
1:161514542 A / C
gnomAD v2:
1-161514542-A-C
gnomAD v3:
1-161544752-A-C
gnomAD v4:
1-161544752-A-C
CIViC:
CA1211378
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161544752A>C , CM000663.2:g.161544752A>C | GRCh38 |
| NC_000001.10:g.161514542A>C , CM000663.1:g.161514542A>C | GRCh37 |
| NC_000001.9:g.159781166A>C | NCBI36 |
| NG_009066.1:g.10872T>G , LRG_60:g.10872T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367967.8:c.526T>G | ENSP00000356944.3:p.Phe176Val | |
| ENST00000426740.8:c.523T>G | ENSP00000410180.3:p.Phe175Val | |
| ENST00000436743.7:c.526T>G | ENSP00000416607.1:p.Phe176Val | |
| ENST00000699395.1:c.526T>G | ENSP00000514356.1:p.Phe176Val | |
| ENST00000699396.1:c.526T>G | ENSP00000514357.1:p.Phe176Val | |
| ENST00000699397.1:c.526T>G | ENSP00000514358.1:p.Phe176Val | |
| ENST00000699398.1:c.526T>G | ENSP00000514359.1:p.Phe176Val | |
| ENST00000699399.1:c.475T>G | ENSP00000514360.1:p.Phe159Val | |
| ENST00000699400.1:c.523T>G | ENSP00000514361.1:p.Phe175Val | |
| ENST00000699401.1:c.526T>G | ENSP00000514362.1:p.Phe176Val | |
| ENST00000426740.7:c.523T>G | ENSP00000410180.3:p.Phe175Val | |
| ENST00000436743.6:c.526T>G | ENSP00000416607.1:p.Phe176Val | |
| ENST00000443193.6:c.526T>G MANE Select | ENSP00000392047.2:p.Phe176Val | |
| ENST00000367967.7:c.526T>G | ENSP00000356944.3:p.Phe176Val | |
| ENST00000367969.7:c.634T>G | ENSP00000356946.3:p.Phe212Val | |
| ENST00000426740.5:c.576T>G | ||
| ENST00000436743.5:c.526T>G | ENSP00000416607.1:p.Phe176Val | |
| ENST00000443193.5:c.526T>G | ENSP00000392047.2:p.Phe176Val | |
| NM_000569.6:c.634T>G | NP_000560.5:p.Phe212Val | |
| NM_001127592.1:c.631T>G | NP_001121064.1:p.Phe211Val | |
| NM_001127593.1:c.526T>G , LRG_60t1:c.526T>G | NP_001121065.1:p.Phe176Val | |
| NM_001127595.1:c.526T>G | NP_001121067.1:p.Phe176Val | |
| NM_001127596.1:c.523T>G | NP_001121068.1:p.Phe175Val | |
| XM_011509293.1:c.428-1553T>G | XP_011507595.1:n.428-1553T>G | |
| NM_000569.7:c.841T>G | NP_000560.6:p.Phe281Val | |
| NM_001127592.2:c.838T>G | NP_001121064.2:p.Phe280Val | |
| NM_001329120.1:c.526T>G | NP_001316049.1:p.Phe176Val | |
| NM_001329122.1:c.635-1553T>G | NP_001316051.1:n.635-1553T>G | |
| XM_024454064.1:c.523T>G | XP_024309832.1:p.Phe175Val | |
| NM_001127595.2:c.526T>G | NP_001121067.1:p.Phe176Val | |
| NM_001127596.2:c.523T>G | NP_001121068.1:p.Phe175Val | |
| NM_000569.8:c.526T>G MANE Select | NP_000560.7:p.Phe176Val | |
| NM_001329120.2:c.526T>G | NP_001316049.1:p.Phe176Val | |
| NM_001386450.1:c.523T>G | NP_001373379.1:p.Phe175Val |