Linked Data
ClinVar Variation Id:
1677089
ClinVar RCV Id:
RCV002222947
dbSNP Id:
rs200539324
gnomAD v2:
11-71146761-C-A
gnomAD v4:
11-71435715-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435715C>A , CM000673.2:g.71435715C>A | GRCh38 |
| NC_000011.9:g.71146761C>A , CM000673.1:g.71146761C>A | GRCh37 |
| NC_000011.8:g.70824409C>A | NCBI36 |
| NG_012655.2:g.17717G>T , LRG_340:g.17717G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1088G>T | ENSP00000435707.3:p.Arg363Leu | |
| ENST00000526780.6:c.1088G>T | ENSP00000435668.2:p.Arg363Leu | |
| ENST00000527316.6:c.914G>T | ENSP00000435047.2:p.Arg305Leu | |
| ENST00000682708.1:c.1139G>T | ENSP00000506866.1:p.Arg380Leu | |
| ENST00000683287.1:c.1124G>T | ENSP00000507607.1:p.Arg375Leu | |
| ENST00000683714.1:c.1096G>T | ENSP00000508207.1:p.Ala366Ser | |
| ENST00000684396.1:n.1128G>T | ||
| ENST00000685320.1:c.503G>T | ENSP00000509319.1:p.Arg168Leu | |
| ENST00000690257.1:c.992G>T | ENSP00000510750.1:p.Arg331Leu | |
| ENST00000355527.8:c.1088G>T MANE Select | ENSP00000347717.4:p.Arg363Leu | |
| ENST00000355527.7:c.1088G>T | ENSP00000347717.3:p.Arg363Leu | |
| ENST00000407721.6:c.1088G>T | ENSP00000384739.2:p.Arg363Leu | |
| ENST00000525137.1:c.589G>T | ENSP00000435956.1:p.Ala197Ser | |
| ENST00000533800.5:c.338G>T | ENSP00000435011.1:p.Arg113Leu | |
| ENST00000534795.5:c.319+2097G>T | ||
| NM_001163817.1:c.1088G>T | NP_001157289.1:p.Arg363Leu | |
| NM_001360.2:c.1088G>T , LRG_340t1:c.1088G>T | NP_001351.2:p.Arg363Leu | |
| XM_011544777.1:c.1222G>T | XP_011543079.1:p.Ala408Ser | |
| XM_011544777.2:c.1222G>T | XP_011543079.1:p.Ala408Ser | |
| NM_001163817.2:c.1088G>T | NP_001157289.1:p.Arg363Leu | |
| NM_001360.3:c.1088G>T MANE Select | NP_001351.2:p.Arg363Leu |