Linked Data
ClinVar Variation Id:
281496
dbSNP Id:
rs531038145
ExAC:
11:71146750 G / A
gnomAD v2:
11-71146750-G-A
gnomAD v3:
11-71435704-G-A
gnomAD v4:
11-71435704-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435704G>A , CM000673.2:g.71435704G>A | GRCh38 |
| NC_000011.9:g.71146750G>A , CM000673.1:g.71146750G>A | GRCh37 |
| NC_000011.8:g.70824398G>A | NCBI36 |
| NG_012655.2:g.17728C>T , LRG_340:g.17728C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1099C>T | ENSP00000435707.3:p.Arg367Cys | |
| ENST00000526780.6:c.1099C>T | ENSP00000435668.2:p.Arg367Cys | |
| ENST00000527316.6:c.925C>T | ENSP00000435047.2:p.Arg309Cys | |
| ENST00000682708.1:c.1150C>T | ENSP00000506866.1:p.Arg384Cys | |
| ENST00000683287.1:c.1135C>T | ENSP00000507607.1:p.Arg379Cys | |
| ENST00000683714.1:c.1107C>T | ENSP00000508207.1:p.Gly369= | |
| ENST00000684396.1:n.1139C>T | ||
| ENST00000685320.1:c.514C>T | ENSP00000509319.1:p.Arg172Cys | |
| ENST00000690257.1:c.1003C>T | ENSP00000510750.1:p.Arg335Cys | |
| ENST00000355527.8:c.1099C>T MANE Select | ENSP00000347717.4:p.Arg367Cys | |
| ENST00000355527.7:c.1099C>T | ENSP00000347717.3:p.Arg367Cys | |
| ENST00000407721.6:c.1099C>T | ENSP00000384739.2:p.Arg367Cys | |
| ENST00000525137.1:c.600C>T | ENSP00000435956.1:p.Gly200= | |
| ENST00000533800.5:c.349C>T | ENSP00000435011.1:p.Arg117Cys | |
| ENST00000534795.5:c.319+2108C>T | ||
| NM_001163817.1:c.1099C>T | NP_001157289.1:p.Arg367Cys | |
| NM_001360.2:c.1099C>T , LRG_340t1:c.1099C>T | NP_001351.2:p.Arg367Cys | |
| XM_011544777.1:c.1233C>T | XP_011543079.1:p.Gly411= | |
| XM_011544777.2:c.1233C>T | XP_011543079.1:p.Gly411= | |
| NM_001163817.2:c.1099C>T | NP_001157289.1:p.Arg367Cys | |
| NM_001360.3:c.1099C>T MANE Select | NP_001351.2:p.Arg367Cys |