Linked Data
dbSNP Id:
rs77762671
ExAC:
11:71146845 G / C
gnomAD v2:
11-71146845-G-C
gnomAD v3:
11-71435799-G-C
gnomAD v4:
11-71435799-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435799G>C , CM000673.2:g.71435799G>C | GRCh38 |
| NC_000011.9:g.71146845G>C , CM000673.1:g.71146845G>C | GRCh37 |
| NC_000011.8:g.70824493G>C | NCBI36 |
| NG_012655.2:g.17633C>G , LRG_340:g.17633C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1004C>G | ENSP00000435707.3:p.Pro335Arg | |
| ENST00000526780.6:c.1004C>G | ENSP00000435668.2:p.Pro335Arg | |
| ENST00000527316.6:c.830C>G | ENSP00000435047.2:p.Pro277Arg | |
| ENST00000682708.1:c.1055C>G | ENSP00000506866.1:p.Pro352Arg | |
| ENST00000683287.1:c.1040C>G | ENSP00000507607.1:p.Pro347Arg | |
| ENST00000683714.1:c.1012C>G | ENSP00000508207.1:p.Arg338Gly | |
| ENST00000684396.1:n.1044C>G | ||
| ENST00000685320.1:c.419C>G | ENSP00000509319.1:p.Pro140Arg | |
| ENST00000690257.1:c.908C>G | ENSP00000510750.1:p.Pro303Arg | |
| ENST00000355527.8:c.1004C>G MANE Select | ENSP00000347717.4:p.Pro335Arg | |
| ENST00000355527.7:c.1004C>G | ENSP00000347717.3:p.Pro335Arg | |
| ENST00000407721.6:c.1004C>G | ENSP00000384739.2:p.Pro335Arg | |
| ENST00000525137.1:c.505C>G | ENSP00000435956.1:p.Arg169Gly | |
| ENST00000533800.5:c.254C>G | ENSP00000435011.1:p.Pro85Arg | |
| ENST00000534795.5:c.319+2013C>G | ||
| NM_001163817.1:c.1004C>G | NP_001157289.1:p.Pro335Arg | |
| NM_001360.2:c.1004C>G , LRG_340t1:c.1004C>G | NP_001351.2:p.Pro335Arg | |
| XM_011544777.1:c.1138C>G | XP_011543079.1:p.Arg380Gly | |
| XM_011544777.2:c.1138C>G | XP_011543079.1:p.Arg380Gly | |
| NM_001163817.2:c.1004C>G | NP_001157289.1:p.Pro335Arg | |
| NM_001360.3:c.1004C>G MANE Select | NP_001351.2:p.Pro335Arg |