Linked Data
dbSNP Id:
rs779709646
ExAC:
11:71146710 C / A
gnomAD v2:
11-71146710-C-A
gnomAD v4:
11-71435664-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435664C>A , CM000673.2:g.71435664C>A | GRCh38 |
| NC_000011.9:g.71146710C>A , CM000673.1:g.71146710C>A | GRCh37 |
| NC_000011.8:g.70824358C>A | NCBI36 |
| NG_012655.2:g.17768G>T , LRG_340:g.17768G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1139G>T | ENSP00000435707.3:p.Cys380Phe | |
| ENST00000526780.6:c.1139G>T | ENSP00000435668.2:p.Cys380Phe | |
| ENST00000527316.6:c.965G>T | ENSP00000435047.2:p.Cys322Phe | |
| ENST00000682708.1:c.1190G>T | ENSP00000506866.1:p.Cys397Phe | |
| ENST00000683287.1:c.1175G>T | ENSP00000507607.1:p.Cys392Phe | |
| ENST00000683714.1:c.1147G>T | ENSP00000508207.1:p.Ala383Ser | |
| ENST00000684396.1:n.1179G>T | ||
| ENST00000685320.1:c.554G>T | ENSP00000509319.1:p.Cys185Phe | |
| ENST00000690257.1:c.1043G>T | ENSP00000510750.1:p.Cys348Phe | |
| ENST00000355527.8:c.1139G>T MANE Select | ENSP00000347717.4:p.Cys380Phe | |
| ENST00000355527.7:c.1139G>T | ENSP00000347717.3:p.Cys380Phe | |
| ENST00000407721.6:c.1139G>T | ENSP00000384739.2:p.Cys380Phe | |
| ENST00000525137.1:c.640G>T | ENSP00000435956.1:p.Ala214Ser | |
| ENST00000533800.5:c.389G>T | ENSP00000435011.1:p.Cys130Phe | |
| ENST00000534795.5:c.319+2148G>T | ||
| NM_001163817.1:c.1139G>T | NP_001157289.1:p.Cys380Phe | |
| NM_001360.2:c.1139G>T , LRG_340t1:c.1139G>T | NP_001351.2:p.Cys380Phe | |
| XM_011544777.1:c.1273G>T | XP_011543079.1:p.Ala425Ser | |
| XM_011544777.2:c.1273G>T | XP_011543079.1:p.Ala425Ser | |
| NM_001163817.2:c.1139G>T | NP_001157289.1:p.Cys380Phe | |
| NM_001360.3:c.1139G>T MANE Select | NP_001351.2:p.Cys380Phe |