Linked Data
dbSNP Id:
rs771137757
ExAC:
11:71146722 T / C
gnomAD v2:
11-71146722-T-C
gnomAD v4:
11-71435676-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435676T>C , CM000673.2:g.71435676T>C | GRCh38 |
| NC_000011.9:g.71146722T>C , CM000673.1:g.71146722T>C | GRCh37 |
| NC_000011.8:g.70824370T>C | NCBI36 |
| NG_012655.2:g.17756A>G , LRG_340:g.17756A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1127A>G | ENSP00000435707.3:p.Lys376Arg | |
| ENST00000526780.6:c.1127A>G | ENSP00000435668.2:p.Lys376Arg | |
| ENST00000527316.6:c.953A>G | ENSP00000435047.2:p.Lys318Arg | |
| ENST00000682708.1:c.1178A>G | ENSP00000506866.1:p.Lys393Arg | |
| ENST00000683287.1:c.1163A>G | ENSP00000507607.1:p.Lys388Arg | |
| ENST00000683714.1:c.1135A>G | ENSP00000508207.1:p.Arg379Gly | |
| ENST00000684396.1:n.1167A>G | ||
| ENST00000685320.1:c.542A>G | ENSP00000509319.1:p.Lys181Arg | |
| ENST00000690257.1:c.1031A>G | ENSP00000510750.1:p.Lys344Arg | |
| ENST00000355527.8:c.1127A>G MANE Select | ENSP00000347717.4:p.Lys376Arg | |
| ENST00000355527.7:c.1127A>G | ENSP00000347717.3:p.Lys376Arg | |
| ENST00000407721.6:c.1127A>G | ENSP00000384739.2:p.Lys376Arg | |
| ENST00000525137.1:c.628A>G | ENSP00000435956.1:p.Arg210Gly | |
| ENST00000533800.5:c.377A>G | ENSP00000435011.1:p.Lys126Arg | |
| ENST00000534795.5:c.319+2136A>G | ||
| NM_001163817.1:c.1127A>G | NP_001157289.1:p.Lys376Arg | |
| NM_001360.2:c.1127A>G , LRG_340t1:c.1127A>G | NP_001351.2:p.Lys376Arg | |
| XM_011544777.1:c.1261A>G | XP_011543079.1:p.Arg421Gly | |
| XM_011544777.2:c.1261A>G | XP_011543079.1:p.Arg421Gly | |
| NM_001163817.2:c.1127A>G | NP_001157289.1:p.Lys376Arg | |
| NM_001360.3:c.1127A>G MANE Select | NP_001351.2:p.Lys376Arg |