Linked Data
ClinVar Variation Id:
449476
dbSNP Id:
rs201150384
ExAC:
11:71146443 C / G
gnomAD v2:
11-71146443-C-G
gnomAD v4:
11-71435397-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435397C>G , CM000673.2:g.71435397C>G | GRCh38 |
| NC_000011.9:g.71146443C>G , CM000673.1:g.71146443C>G | GRCh37 |
| NC_000011.8:g.70824091C>G | NCBI36 |
| NG_012655.2:g.18035G>C , LRG_340:g.18035G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1406G>C | ENSP00000435707.3:p.Arg469Pro | |
| ENST00000526780.6:c.1406G>C | ENSP00000435668.2:p.Arg469Pro | |
| ENST00000527316.6:c.1232G>C | ENSP00000435047.2:p.Arg411Pro | |
| ENST00000682708.1:c.1457G>C | ENSP00000506866.1:p.Arg486Pro | |
| ENST00000683287.1:c.1442G>C | ENSP00000507607.1:p.Arg481Pro | |
| ENST00000683714.1:c.*169G>C | ENSP00000508207.1:n.*169G>C | |
| ENST00000684396.1:n.1446G>C | ||
| ENST00000685320.1:c.821G>C | ENSP00000509319.1:p.Arg274Pro | |
| ENST00000690257.1:c.1310G>C | ENSP00000510750.1:p.Arg437Pro | |
| ENST00000355527.8:c.1406G>C MANE Select | ENSP00000347717.4:p.Arg469Pro | |
| ENST00000355527.7:c.1406G>C | ENSP00000347717.3:p.Arg469Pro | |
| ENST00000407721.6:c.1406G>C | ENSP00000384739.2:p.Arg469Pro | |
| ENST00000525137.1:c.907G>C | ENSP00000435956.1:n.907G>C | |
| ENST00000533800.5:c.611+45G>C | ENSP00000435011.1:n.611+45G>C | |
| ENST00000534795.5:c.319+2415G>C | ||
| NM_001163817.1:c.1406G>C | NP_001157289.1:p.Arg469Pro | |
| NM_001360.2:c.1406G>C , LRG_340t1:c.1406G>C | NP_001351.2:p.Arg469Pro | |
| XM_011544777.1:c.*169G>C | XP_011543079.1:n.*169G>C | |
| XM_011544777.2:c.*169G>C | XP_011543079.1:n.*169G>C | |
| NM_001163817.2:c.1406G>C | NP_001157289.1:p.Arg469Pro | |
| NM_001360.3:c.1406G>C MANE Select | NP_001351.2:p.Arg469Pro |