Linked Data
ClinVar Variation Id:
2984213
ClinVar RCV Id:
RCV003843372
dbSNP Id:
rs776099806
ExAC:
11:71146814 C / G
gnomAD v2:
11-71146814-C-G
gnomAD v3:
11-71435768-C-G
gnomAD v4:
11-71435768-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435768C>G , CM000673.2:g.71435768C>G | GRCh38 |
| NC_000011.9:g.71146814C>G , CM000673.1:g.71146814C>G | GRCh37 |
| NC_000011.8:g.70824462C>G | NCBI36 |
| NG_012655.2:g.17664G>C , LRG_340:g.17664G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1035G>C | ENSP00000435707.3:p.Leu345= | |
| ENST00000526780.6:c.1035G>C | ENSP00000435668.2:p.Leu345= | |
| ENST00000527316.6:c.861G>C | ENSP00000435047.2:p.Leu287= | |
| ENST00000682708.1:c.1086G>C | ENSP00000506866.1:p.Leu362= | |
| ENST00000683287.1:c.1071G>C | ENSP00000507607.1:p.Leu357= | |
| ENST00000683714.1:c.1043G>C | ENSP00000508207.1:p.Trp348Ser | |
| ENST00000684396.1:n.1075G>C | ||
| ENST00000685320.1:c.450G>C | ENSP00000509319.1:p.Leu150= | |
| ENST00000690257.1:c.939G>C | ENSP00000510750.1:p.Leu313= | |
| ENST00000355527.8:c.1035G>C MANE Select | ENSP00000347717.4:p.Leu345= | |
| ENST00000355527.7:c.1035G>C | ENSP00000347717.3:p.Leu345= | |
| ENST00000407721.6:c.1035G>C | ENSP00000384739.2:p.Leu345= | |
| ENST00000525137.1:c.536G>C | ENSP00000435956.1:p.Trp179Ser | |
| ENST00000533800.5:c.285G>C | ENSP00000435011.1:p.Leu95= | |
| ENST00000534795.5:c.319+2044G>C | ||
| NM_001163817.1:c.1035G>C | NP_001157289.1:p.Leu345= | |
| NM_001360.2:c.1035G>C , LRG_340t1:c.1035G>C | NP_001351.2:p.Leu345= | |
| XM_011544777.1:c.1169G>C | XP_011543079.1:p.Trp390Ser | |
| XM_011544777.2:c.1169G>C | XP_011543079.1:p.Trp390Ser | |
| NM_001163817.2:c.1035G>C | NP_001157289.1:p.Leu345= | |
| NM_001360.3:c.1035G>C MANE Select | NP_001351.2:p.Leu345= |