Linked Data
dbSNP Id:
rs139724817
ExAC:
11:71146861 C / G
gnomAD v2:
11-71146861-C-G
gnomAD v3:
11-71435815-C-G
gnomAD v4:
11-71435815-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435815C>G , CM000673.2:g.71435815C>G | GRCh38 |
| NC_000011.9:g.71146861C>G , CM000673.1:g.71146861C>G | GRCh37 |
| NC_000011.8:g.70824509C>G | NCBI36 |
| NG_012655.2:g.17617G>C , LRG_340:g.17617G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.988G>C | ENSP00000435707.3:p.Val330Leu | |
| ENST00000526780.6:c.988G>C | ENSP00000435668.2:p.Val330Leu | |
| ENST00000527316.6:c.814G>C | ENSP00000435047.2:p.Val272Leu | |
| ENST00000682708.1:c.1039G>C | ENSP00000506866.1:p.Val347Leu | |
| ENST00000683287.1:c.1024G>C | ENSP00000507607.1:p.Val342Leu | |
| ENST00000683714.1:c.996G>C | ENSP00000508207.1:p.Pro332= | |
| ENST00000684396.1:n.1028G>C | ||
| ENST00000685320.1:c.403G>C | ENSP00000509319.1:p.Val135Leu | |
| ENST00000690257.1:c.892G>C | ENSP00000510750.1:p.Val298Leu | |
| ENST00000355527.8:c.988G>C MANE Select | ENSP00000347717.4:p.Val330Leu | |
| ENST00000355527.7:c.988G>C | ENSP00000347717.3:p.Val330Leu | |
| ENST00000407721.6:c.988G>C | ENSP00000384739.2:p.Val330Leu | |
| ENST00000525137.1:c.489G>C | ENSP00000435956.1:p.Pro163= | |
| ENST00000533800.5:c.238G>C | ENSP00000435011.1:p.Val80Leu | |
| ENST00000534795.5:c.319+1997G>C | ||
| NM_001163817.1:c.988G>C | NP_001157289.1:p.Val330Leu | |
| NM_001360.2:c.988G>C , LRG_340t1:c.988G>C | NP_001351.2:p.Val330Leu | |
| XM_011544777.1:c.1122G>C | XP_011543079.1:p.Pro374= | |
| XM_011544777.2:c.1122G>C | XP_011543079.1:p.Pro374= | |
| NM_001163817.2:c.988G>C | NP_001157289.1:p.Val330Leu | |
| NM_001360.3:c.988G>C MANE Select | NP_001351.2:p.Val330Leu |