Linked Data
dbSNP Id:
rs781043327
ExAC:
11:71146698 G / C
gnomAD v2:
11-71146698-G-C
gnomAD v4:
11-71435652-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435652G>C , CM000673.2:g.71435652G>C | GRCh38 |
| NC_000011.9:g.71146698G>C , CM000673.1:g.71146698G>C | GRCh37 |
| NC_000011.8:g.70824346G>C | NCBI36 |
| NG_012655.2:g.17780C>G , LRG_340:g.17780C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1151C>G | ENSP00000435707.3:p.Ser384Cys | |
| ENST00000526780.6:c.1151C>G | ENSP00000435668.2:p.Ser384Cys | |
| ENST00000527316.6:c.977C>G | ENSP00000435047.2:p.Ser326Cys | |
| ENST00000682708.1:c.1202C>G | ENSP00000506866.1:p.Ser401Cys | |
| ENST00000683287.1:c.1187C>G | ENSP00000507607.1:p.Ser396Cys | |
| ENST00000683714.1:c.1159C>G | ENSP00000508207.1:p.Pro387Ala | |
| ENST00000684396.1:n.1191C>G | ||
| ENST00000685320.1:c.566C>G | ENSP00000509319.1:p.Ser189Cys | |
| ENST00000690257.1:c.1055C>G | ENSP00000510750.1:p.Ser352Cys | |
| ENST00000355527.8:c.1151C>G MANE Select | ENSP00000347717.4:p.Ser384Cys | |
| ENST00000355527.7:c.1151C>G | ENSP00000347717.3:p.Ser384Cys | |
| ENST00000407721.6:c.1151C>G | ENSP00000384739.2:p.Ser384Cys | |
| ENST00000525137.1:c.652C>G | ENSP00000435956.1:p.Pro218Ala | |
| ENST00000533800.5:c.401C>G | ENSP00000435011.1:p.Ser134Cys | |
| ENST00000534795.5:c.319+2160C>G | ||
| NM_001163817.1:c.1151C>G | NP_001157289.1:p.Ser384Cys | |
| NM_001360.2:c.1151C>G , LRG_340t1:c.1151C>G | NP_001351.2:p.Ser384Cys | |
| XM_011544777.1:c.1285C>G | XP_011543079.1:p.Pro429Ala | |
| XM_011544777.2:c.1285C>G | XP_011543079.1:p.Pro429Ala | |
| NM_001163817.2:c.1151C>G | NP_001157289.1:p.Ser384Cys | |
| NM_001360.3:c.1151C>G MANE Select | NP_001351.2:p.Ser384Cys |